| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abdominal aortic aneurysm complicated by descending thoracic aortic dissection in a patient with TGFBR1 mutation
|
Huang, Chen
|
|
|
25 |
1 |
|
artikel
|
| 2 |
A bioinformatics approach to reveal common genes and molecular pathways shared by cutaneous melanoma and uveal melanoma
|
Jayaraj, Perumal
|
|
|
25 |
1 |
|
artikel
|
| 3 |
A brief review of noncoding RNA
|
George, Tina P.
|
|
|
25 |
1 |
|
artikel
|
| 4 |
A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy
|
Badv, Reza Shervin
|
|
|
25 |
1 |
|
artikel
|
| 5 |
A case of double aneuploidy of Down and Klinefelter syndrome in an Indian infant: a detailed case report
|
Patel, Sunny Kumar Jignesh Kumar
|
|
|
25 |
1 |
|
artikel
|
| 6 |
ACE I/D polymorphism in cognitive impairment and depression among North Indian adults: a pilot study
|
Sharma, Apoorva
|
|
|
25 |
1 |
|
artikel
|
| 7 |
A comprehensive analysis of the expression and prognostic significance of signal transducers and activators of transcription family in gastric cancer patients
|
Fu, Denggang
|
|
|
25 |
1 |
|
artikel
|
| 8 |
A cost-efficient algorithm for diagnosing children with dysmorphic features
|
Levkova, Mariya
|
|
|
25 |
1 |
|
artikel
|
| 9 |
ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review
|
El Khatib, Dalida
|
|
|
25 |
1 |
|
artikel
|
| 10 |
A genotypic and phenotypic analysis of four unrelated Chinese patients with Pitt–Hopkins syndrome
|
Jiang, Dandan
|
|
|
25 |
1 |
|
artikel
|
| 11 |
Alterations in the metabolic signature of full-term infants of diabetic mothers
|
Awad, Hesham A.
|
|
|
25 |
1 |
|
artikel
|
| 12 |
Altered expression of long non-coding RNAs NRON and SNHG11 in patients with ischemic stroke
|
Gharbi, Negin
|
|
|
25 |
1 |
|
artikel
|
| 13 |
Analysis of the CYP21A2 gene pathogenic variants in CAH patients from Surgut using next-generation sequencing (NGS)
|
Osinovskaya, Natalia
|
|
|
25 |
1 |
|
artikel
|
| 14 |
An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis
|
El Hawary, Rabab
|
|
|
25 |
1 |
|
artikel
|
| 15 |
An integrative analysis of functional consequences of PKD2 missense variants on RNA and protein structures: a computational approach
|
Devi, Chandra
|
|
|
25 |
1 |
|
artikel
|
| 16 |
A novel N7-methylguanosine-associated feature predicts prognosis in gastric cancer
|
Zhao, Shixing
|
|
|
25 |
1 |
|
artikel
|
| 17 |
A novel USP51 variant in a patient with autism spectrum disorder and epilepsy
|
Garg, Ria
|
|
|
25 |
1 |
|
artikel
|
| 18 |
A perspective on the genesis, diagnostics, and management of sickle cell disease
|
Hassan, Md Samim
|
|
|
25 |
1 |
|
artikel
|
| 19 |
Artificial intelligence-driven enhanced skin cancer diagnosis: leveraging convolutional neural networks with discrete wavelet transformation
|
Claret, S. P. Angelin
|
|
|
25 |
1 |
|
artikel
|
| 20 |
Assessment of interleukin-6 and cathepsin-B gene expression in breast cancer women
|
Ibrahim, Basma A.
|
|
|
25 |
1 |
|
artikel
|
| 21 |
Assessment of liver x receptor messenger RNA beta and microRNA-146a in a group of Egyptian patients with Behçet’s disease
|
Ahmed, Yara A.
|
|
|
25 |
1 |
|
artikel
|
| 22 |
Association between BAFF gene polymorphism and systemic lupus erythematosus: a meta-analysis
|
Wu, Qing
|
|
|
25 |
1 |
|
artikel
|
| 23 |
Association between diabetes mellitus and giant cell arteritis: a bidirectional 2-sample mendelian randomization study
|
Chen, Si
|
|
|
25 |
1 |
|
artikel
|
| 24 |
Association between estrogen receptor-1 gene polymorphisms (rs1801132, rs2228480, rs2234693) and migraine susceptibility: an unveiling association through a comprehensive meta-analysis
|
Stephen, Sharon Benita
|
|
|
25 |
1 |
|
artikel
|
| 25 |
Association between genetic polymorphisms and other attributing factors with lipid profiles among statin users: a cross-sectional retrospective study
|
Shamsudin, Amirul Faez
|
|
|
25 |
1 |
|
artikel
|
| 26 |
Association between three common genetic polymorphisms of xeroderma pigmentosum complementation group C (XPC) and susceptibility to opium dependency
|
Qasemian-Talgard, Arghavan
|
|
|
25 |
1 |
|
artikel
|
| 27 |
Association of ARMS2, HTRA1 and CFH genes polymorphisms in patients with age-related macular degeneration in the Malaysian population
|
Ismail, Fazliana
|
|
|
25 |
1 |
|
artikel
|
| 28 |
Association of common variant rs9934336 of SLC5A2 (SGLT2) gene with SARS-CoV-2 infection and mortality
|
Das, Anamika
|
|
|
25 |
1 |
|
artikel
|
| 29 |
Association of IL-4 (− 590 C/T) and IL-6 (− 174 G/C) gene polymorphism in South Indian CKD patients
|
Sevak, Vandit
|
|
|
25 |
1 |
|
artikel
|
| 30 |
Association of insertion/deletion (I/D) polymorphism of angiotensin-converting enzyme gene (ACE) with Parkinson’s disease and factors risk in eastern Algeria: case–control study
|
Meroua, Horchi-Mekkaoui
|
|
|
25 |
1 |
|
artikel
|
| 31 |
Association of leptin–melanocortin gene polymorphisms with the risk of obesity in northwest Indian population
|
Sharma, Tanmayi
|
|
|
25 |
1 |
|
artikel
|
| 32 |
Association of MnSOD (rs4880) and GPx1 (rs1050450) with diabetic nephropathy: a meta-analysis
|
Begum, Farhana
|
|
|
25 |
1 |
|
artikel
|
| 33 |
Association of p53 codon 72 polymorphism with weight and metabolic diseases in a Central Indian population
|
Abraham, Jessy
|
|
|
25 |
1 |
|
artikel
|
| 34 |
Association of single nucleotide polymorphism at BMP2 gene with iron deficiency status among anaemic patients in Hospital Universiti Sains Malaysia
|
Azman, Nur Ain
|
|
|
25 |
1 |
|
artikel
|
| 35 |
Association of SIRT1 (rs7069102) Gene polymorphism with premature myocardial infarction in young Egyptian patients
|
Altaher, Ali Mohamad
|
|
|
25 |
1 |
|
artikel
|
| 36 |
Association of SLC30A8 rs13266634 gene polymorphism with type 2 diabetes mellitus (T2DM) in a population of Noakhali, Bangladesh: a case–control study
|
Mitu, Farhana Siddiqi
|
|
|
25 |
1 |
|
artikel
|
| 37 |
Association of VEGF-2549I/D promoter polymorphism with gastrointestinal tract cancer risk: a meta-analysis
|
Mahajan, Deepanshi
|
|
|
25 |
1 |
|
artikel
|
| 38 |
Association of VEGFR1, VEGFR2 and VEGFR3 polymorphisms with esophageal cancer risk: a case–control study
|
Walia, Sukhpreet Kaur
|
|
|
25 |
1 |
|
artikel
|
| 39 |
Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report
|
Zeraati, Tina
|
|
|
25 |
1 |
|
artikel
|
| 40 |
BRCA mutations: screening for germ-line founder mutations among early-onset Syrian breast cancer patients
|
Wahabi Alzahabi, Salma
|
|
|
25 |
1 |
|
artikel
|
| 41 |
Causal associations between gut microbiota and chronic prostatitis/chronic pelvic pain syndrome: a two-sample Mendelian randomization study
|
Xu, Hao
|
|
|
25 |
1 |
|
artikel
|
| 42 |
CD36 gene variant rs1761667(G/A) as a biomarker in obese type 2 diabetes mellitus cases
|
Shukla, Ashwin Kumar
|
|
|
25 |
1 |
|
artikel
|
| 43 |
Cellulose acetate electrophoretic separation of serum and urine proteins in Nigerian children with autism spectrum disorders
|
Adewole, Mudathir A.
|
|
|
25 |
1 |
|
artikel
|
| 44 |
Challenges in blood transfusion caused by anti-Hr0: A rare case of D-- Phenotype in Asia Abstract
|
Luo, Yuanyuan
|
|
|
25 |
1 |
|
artikel
|
| 45 |
Characteristics of DNMT3a mutation in acute myeloid leukemia and its prognostic implication
|
Khattab, Ahmed Mahmoud Taha
|
|
|
25 |
1 |
|
artikel
|
| 46 |
Characterization of mitochondrial DNA mutations in colorectal cancer progression by in silico approach and use as potential biomarkers for diagnosis and prognosis
|
Gadicherla, Ramya
|
|
|
25 |
1 |
|
artikel
|
| 47 |
Clinical impact of IDH1 mutations and MGMT methylation in adult glioblastoma
|
Mahmoud, Magda Sayed
|
|
|
25 |
1 |
|
artikel
|
| 48 |
Comprehensive analysis of an mRNA co-expression network and a ceRNA network reveals potential prognostic biomarkers in oral squamous cell carcinoma
|
He, Liming
|
|
|
25 |
1 |
|
artikel
|
| 49 |
Computational analysis of non-synonymous SNPs in the human LCN2 gene
|
Sivakumar, Kaniha
|
|
|
25 |
1 |
|
artikel
|
| 50 |
Computational analysis of the divergent neurotranscriptomic signatures of major depression and suicidality
|
Nishanth, M. J.
|
|
|
25 |
1 |
|
artikel
|
| 51 |
Consanguinity, complex diseases and congenital disabilities in the Souss population (Southern Morocco): a cross-sectional survey
|
Dahbi, Noura
|
|
|
25 |
1 |
|
artikel
|
| 52 |
Conventional and molecular cytogenetic characterization of a Moroccan patient with WAGR syndrome
|
Chbel, Faiza
|
|
|
25 |
1 |
|
artikel
|
| 53 |
Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication
|
Quental, Rita
|
|
|
25 |
1 |
|
artikel
|
| 54 |
Corneal microstructural changes of precise CHST6 gene mutation: a case series
|
Murugan, Durga
|
|
|
25 |
1 |
|
artikel
|
| 55 |
Correction: A bioinformatics approach to reveal common genes and molecular pathways shared by cutaneous melanoma and uveal melanoma
|
Jayaraj, Perumal
|
|
|
25 |
1 |
|
artikel
|
| 56 |
Correction: Association between estrogen receptor-1 gene polymorphisms (rs1801132, rs2228480, rs2234693) and migraine susceptibility: an unveiling association through a comprehensive meta-analysis
|
Stephen, Sharon Benita
|
|
|
25 |
1 |
|
artikel
|
| 57 |
Correction: Association between miR-138-5p, miR-132-3p, SIRT1, STAT3, and CD36 and atherogenic indices in blood mononuclear cells from patients with atherosclerosis
|
Ehsani, Samira
|
|
|
25 |
1 |
|
artikel
|
| 58 |
Correction: Emanuel syndrome due to unusual pattern
|
El-Bassyouni, Hala T.
|
|
|
25 |
1 |
|
artikel
|
| 59 |
cxsAssociation study between single nucleotide polymorphism in thrombospondins THBS1 gene and THBS2 gene and coronary artery disease in Indian population
|
Eba, Ale
|
|
|
25 |
1 |
|
artikel
|
| 60 |
Deciphering the landscape of lncRNA-driven ceRNA network in schizophrenia etiology
|
Mukhopadhyay, Anirban
|
|
|
25 |
1 |
|
artikel
|
| 61 |
Decoding the role of NOS3 rs1799983 and PON1 rs662 variants in cardiovascular diseases
|
Aamir, Kainat
|
|
|
25 |
1 |
|
artikel
|
| 62 |
Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion
|
El-Beshlawy, Amal
|
|
|
25 |
1 |
|
artikel
|
| 63 |
Diagnostic and prognostic value of single nucleotide polymorphisms in autophagy-related genes (ATG) among Egyptian patients with breast cancer disease
|
Saadawy, Sara F.
|
|
|
25 |
1 |
|
artikel
|
| 64 |
Diagnostic biomarkers for ST-segment elevation myocardial infarction using RNA methylation regulators
|
Li, Yeting
|
|
|
25 |
1 |
|
artikel
|
| 65 |
DNA methylation of ELOVL2 gene as an epigenetic marker of age among Egyptian population
|
El-Shishtawy, Noha M.
|
|
|
25 |
1 |
|
artikel
|
| 66 |
Double trouble: how c-MET and HER2 fuel bladder cancer progression
|
Naguib, E. M.
|
|
|
25 |
1 |
|
artikel
|
| 67 |
Effectiveness of the application of an educational program based on the Theory of Planned Behavior (TPB) in adopting preventive behaviors among mothers who have thalassemia children in Iran: a randomized controlled trial
|
Zareban, Iraj
|
|
|
25 |
1 |
|
artikel
|
| 68 |
Emanuel syndrome due to unusual pattern
|
El-Bassyouni, Hala T.
|
|
|
25 |
1 |
|
artikel
|
| 69 |
Emerging biomarkers and potential therapeutics of the BCL-2 protein family: the apoptotic and anti-apoptotic context
|
Saddam, Md.
|
|
|
25 |
1 |
|
artikel
|
| 70 |
Evaluation of adropin, fibroblast growth factor-1 (FGF-1), and Toll-like receptor-1 (TLR1) biomarkers in patients with inflammatory bowel disease: gene expression of TNF-α as a marker of disease severity
|
Zaki, Moushira
|
|
|
25 |
1 |
|
artikel
|
| 71 |
Evaluation of expression levels of microRNA processing elements in patients with sudden sensorineural hearing loss
|
Jabbari-Moghaddam, Yalda
|
|
|
25 |
1 |
|
artikel
|
| 72 |
Evaluation of serum MicroRNA 21, MicroRNA 192 and serum TGFβ1 in type 2 diabetes mellitus patients and their relation to diabetic nephropathy
|
Abou Eleila, Jumana Gamal
|
|
|
25 |
1 |
|
artikel
|
| 73 |
Evaluation of the biomarker potential of miR-650 and miR-663b in tumor tissues and plasma specimens of colon cancer patients living in northwest of Iran
|
Valizadeh, Mehdi
|
|
|
25 |
1 |
|
artikel
|
| 74 |
Evaluation of the effects of curcumin on chronic obstructive pulmonary disease with a bio-computational approach
|
Maboudian, Mohammad
|
|
|
25 |
1 |
|
artikel
|
| 75 |
Exploring potential therapeutic strategy for hepatocellular carcinoma and COVID-19 using bioinformatics analysis
|
Tang, Jiayan
|
|
|
25 |
1 |
|
artikel
|
| 76 |
Exploring SLC30A6 as a potential prognostic, immunomodulatory, and therapeutic biomarker in various cancers with a focus on pancreatic cancer: a pan-cancer analysis
|
Maghool, Fatemeh
|
|
|
25 |
1 |
|
artikel
|
| 77 |
Exploring the interplay of MTHFR and FGG polymorphisms with serum levels of adiponectin and leptin in pediatric lupus nephritis: a pilot study
|
De Egea, Gloria Garavito
|
|
|
25 |
1 |
|
artikel
|
| 78 |
Exploring the potential of phytoconstituents from Phaseolus vulgaris L against C-X-C motif chemokine receptor 4 (CXCR4): a bioinformatic and molecular dynamic simulations approach
|
Wahono, Cesarius Singgih
|
|
|
25 |
1 |
|
artikel
|
| 79 |
First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p
|
Satekge, Tumelo M.
|
|
|
25 |
1 |
|
artikel
|
| 80 |
Four microRNA gene polymorphisms are associated with Iraqi patients with colorectal cancer
|
Jameel, Zahraa Isam
|
|
|
25 |
1 |
|
artikel
|
| 81 |
FSHB and FSHR genes variants in combination with hormones levels predict low and high ovarian response to controlled ovarian stimulation: a logistic regressive model
|
Lyangasova, Olga V.
|
|
|
25 |
1 |
|
artikel
|
| 82 |
Genetic analysis of BRPF1 exon deletion variant causing intellectual developmental disorder with dysmorphic facies and ptosis in a Chinese family
|
Liu, Qian
|
|
|
25 |
1 |
|
artikel
|
| 83 |
Genetic association study for three single nucleotide polymorphisms related to type 2 diabetes in Egyptian population
|
Zareef, Galena W.
|
|
|
25 |
1 |
|
artikel
|
| 84 |
Genetic-driven biomarkers for liver fibrosis through bioinformatic approach
|
Paulina, Ariza Julia
|
|
|
25 |
1 |
|
artikel
|
| 85 |
Genetic factors and the role of pancreatic amylase in the pathogenesis of type 2 diabetes
|
Abdulkareem, Mutiat A.
|
|
|
25 |
1 |
|
artikel
|
| 86 |
Genetic polymorphisms associated with preeclampsia risk in Nigerian women
|
Olaniyan, Mathew F.
|
|
|
25 |
1 |
|
artikel
|
| 87 |
Genetic predisposition to thyroid dysfunction: a case–control study investigating TSHR gene polymorphism (rs2268458) in Indians
|
Tyagi, Shama
|
|
|
25 |
1 |
|
artikel
|
| 88 |
Genetic underpinnings of neonatal diabetes: a review of current research
|
Golshan-Tafti, Mohammad
|
|
|
25 |
1 |
|
artikel
|
| 89 |
Genetic variations in PADI4 and CCR6: a comprehensive meta-analysis on rheumatoid arthritis susceptibility
|
Muruganantham, Jethendra Kumar
|
|
|
25 |
1 |
|
artikel
|
| 90 |
Genomic susceptibility to gastric cancer in Northwest Iran: population-based and case–control studies
|
Aghghaleh, Homa Akhavan
|
|
|
25 |
1 |
|
artikel
|
| 91 |
Genotype-biochemical phenotype analysis in newborns with biotinidase deficiency in Southeastern Anatolia
|
Karaoglan, Murat
|
|
|
25 |
1 |
|
artikel
|
| 92 |
Germline variants in the Von Hippel-Lindau tumor suppressor gene in Cuban patients
|
Esperón Álvarez, Antonio Alejandro
|
|
|
25 |
1 |
|
artikel
|
| 93 |
Identification and interaction analysis of molecular markers in myocardial infarction by bioinformatics and next-generation sequencing data analysis
|
Vastrad, Basavaraj
|
|
|
25 |
1 |
|
artikel
|
| 94 |
Identification of a novel ATR-X mutation causative of acquired α-thalassemia in a myelofibrosis patient
|
Catapano, Rosa
|
|
|
25 |
1 |
|
artikel
|
| 95 |
Identification of circRNA–miRNA–mRNA regulatory network associated to the autism spectrum disorder in children through integrated bioinformatics analysis
|
Reiisi, Somayeh
|
|
|
25 |
1 |
|
artikel
|
| 96 |
Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family
|
Mohammadi, Aliasgar
|
|
|
25 |
1 |
|
artikel
|
| 97 |
Inhibition of JAK2 and MDM2 to treat secondary acute myeloid leukemia evolving from myelofibrosis
|
Wang, Fuping
|
|
|
25 |
1 |
|
artikel
|
| 98 |
INI1 (SMARCB1) deletion of lung cancer: a case report and literature review
|
Ma, Hong-Yan
|
|
|
25 |
1 |
|
artikel
|
| 99 |
Innate immunodeficiencies: a group of primary immunodeficiencies predisposing exclusively to common diseases
|
Refaat, Marwa
|
|
|
25 |
1 |
|
artikel
|
| 100 |
Insights into the structural and functional analysis of impact of the missense mutations on α-synuclein: an in silico study
|
Sharma, Abhishek
|
|
|
25 |
1 |
|
artikel
|
| 101 |
In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population
|
Khosravi, Teymoor
|
|
|
25 |
1 |
|
artikel
|
| 102 |
In silico identification and characterisation of pathogenic genetic variants (nsSNPs) in the eukaryotic initiation factors eIF2 and eIF2B affecting miRNA binding sites
|
Madasu, Pavan K.
|
|
|
25 |
1 |
|
artikel
|
| 103 |
Interactions between cancer and stroma mediated by extracellular vesicles
|
Najafzadeh, Mahsa
|
|
|
25 |
1 |
|
artikel
|
| 104 |
Investigating the association of exon variant rs1800470 of TGF-β1 gene with the risk of stroke using a meta-analysis approach
|
Zabihi sheshpoli, Mohammadhossein
|
|
|
25 |
1 |
|
artikel
|
| 105 |
Investigation of the expression of long non-coding RNA in Parkinson’s disease
|
Mazdeh, Mehrdokht
|
|
|
25 |
1 |
|
artikel
|
| 106 |
Irreversible methadone-induced GSTP1 downregulation in SH-SY5Y cells
|
Saify, Khyber
|
|
|
25 |
1 |
|
artikel
|
| 107 |
Low heterozygosity for rs3811050, a 5 prime untranslated region variant of the gene encoding interleukin-38 (IL1F10), is associated with a reduced risk of systemic lupus erythematosus
|
Nijeeb, Rawan A.
|
|
|
25 |
1 |
|
artikel
|
| 108 |
Mechanism of metabolic memory: progression in diabetic nephropathy—a descriptive review
|
Begum, Farhana
|
|
|
25 |
1 |
|
artikel
|
| 109 |
miR-146a and miR-155 as promising biomarkers for prognosis and diagnosis of multiple sclerosis: systematic review
|
Rajabi, Soroush
|
|
|
25 |
1 |
|
artikel
|
| 110 |
Molecular characterization of Ebola virus, immune response, and therapeutic challenges: a narrative review
|
Ndayambaje, Martin
|
|
|
25 |
1 |
|
artikel
|
| 111 |
Molecular diagnosis of mtDNA syndromes in Egyptian pediatric patients: a hospital-based study
|
Mehaney, Dina
|
|
|
25 |
1 |
|
artikel
|
| 112 |
Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management
|
Zhoulideh, Yalda
|
|
|
25 |
1 |
|
artikel
|
| 113 |
MTHFR (C677T) polymorphism and its association with cytogenetic and clinical profile in individuals with primary amenorrhea
|
Sanghavi, Priyanka M.
|
|
|
25 |
1 |
|
artikel
|
| 114 |
Mutational landscape of BRCA gene mutations in Indian breast cancer patients: retrospective insights from a diagnostic lab
|
Chikkala, Rosy
|
|
|
25 |
1 |
|
artikel
|
| 115 |
NKX2.5 coding exons sequencing reveals novel non-synonymous mutations in patients with sporadic congenital heart diseases among the Tanzanian population
|
Suluba, Emmanuel
|
|
|
25 |
1 |
|
artikel
|
| 116 |
Noninvasive diagnostic value of urinary mir-663a in pediatric lupus nephritis
|
Albostany, Toulin Mohamed Abdelaziz
|
|
|
25 |
1 |
|
artikel
|
| 117 |
Novel EXT1 variants cause divergent symptom severity in multiple cartilaginous exostoses: a family report
|
Atasever Yildirim, Gozde
|
|
|
25 |
1 |
|
artikel
|
| 118 |
Novel homozygous CARD11 variants in two patients with combined immunodeficiency and atopic skin disease
|
Meshaal, Safa
|
|
|
25 |
1 |
|
artikel
|
| 119 |
Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report
|
Luo, Juan
|
|
|
25 |
1 |
|
artikel
|
| 120 |
Novel mutation as a cause of anterior segment dysgenesis leading to blindness in progeny: the genetics decoded!
|
Pritti, Kumari
|
|
|
25 |
1 |
|
artikel
|
| 121 |
Novel oxidative stress- and ferroptosis-related gene prognostic signature for erectile dysfunction
|
Liu, Meijun
|
|
|
25 |
1 |
|
artikel
|
| 122 |
Novel TRPV6 variant linked with transient neonatal hyperparathyroidism
|
Kumar, Chanchal
|
|
|
25 |
1 |
|
artikel
|
| 123 |
Nuclear factor kappa B 1 A > G single-nucleotide polymorphism (rs4648068) in Egyptian patients with Behcet’s syndrome, case–control study
|
Saad, Moustafa Ali
|
|
|
25 |
1 |
|
artikel
|
| 124 |
On the cutting edge of sickle cell disease: a snapshot narrative review
|
Menshawey, Rahma
|
|
|
25 |
1 |
|
artikel
|
| 125 |
Osteogenesis imperfecta type XVII: expansion of the phenotype
|
Dunleavy, Brooke M.
|
|
|
25 |
1 |
|
artikel
|
| 126 |
Pan-cancer analysis identified IGF2BP2 as a potential prognostic biomarker for multiple tumor types
|
Zhou, Hong-Lu
|
|
|
25 |
1 |
|
artikel
|
| 127 |
Potential biomarker signatures in male infertility: integrative genomic analysis
|
Junahar, Devalina
|
|
|
25 |
1 |
|
artikel
|
| 128 |
Predictors of COVID-19 severity among a cohort of Egyptian patients
|
Fathy, Mona
|
|
|
25 |
1 |
|
artikel
|
| 129 |
Preliminary study: nutrigenomics analysis results of COVID-19 survivors
|
Veterini, Anna Surgean
|
|
|
25 |
1 |
|
artikel
|
| 130 |
Profiling hippocampal expression of long non-coding RNA GM12371 in a rat model of vascular dementia
|
Hooshmandi, Etrat
|
|
|
25 |
1 |
|
artikel
|
| 131 |
Prognosis and immunological characteristics of HDAC family in pan-cancer through integrative multi-omic analysis
|
Chen, Changsheng
|
|
|
25 |
1 |
|
artikel
|
| 132 |
Prognosis and treatment in acute myeloid leukemia: a comprehensive review
|
Debnath, Ankita
|
|
|
25 |
1 |
|
artikel
|
| 133 |
Prognostic significance of miR 499 expression and Helicobacter pylori infection in malignant lesions of gallbladder cancer: a clinicopathological study
|
Fatima, Naseem
|
|
|
25 |
1 |
|
artikel
|
| 134 |
Purine nucleoside phosphorylase (PNP) deficiency: across-the-board severe combined immunodeficiency
|
Chohayeb, Engy A.
|
|
|
25 |
1 |
|
artikel
|
| 135 |
Relationship between the efficacy and adverse effects of methotrexate and gene polymorphism
|
Zhao, Xin
|
|
|
25 |
1 |
|
artikel
|
| 136 |
Reporting three rare pathogenic variants at the CFTR gene in two unrelated Iranian Azeri children with cystic fibrosis
|
Hosseini-Asl, S. Erfan
|
|
|
25 |
1 |
|
artikel
|
| 137 |
Retinoic Acid-Induced 1 gene variants associated with Smith–Magenis syndrome circadian phenotypes enriched in autism spectrum disorder: whole-genome sequencing study
|
Smieszek, Sandra Paulina
|
|
|
25 |
1 |
|
artikel
|
| 138 |
Role of sgk1 in cancer: a bibliometric analysis from 2013 to 2023—review article
|
Abo- Elenien, Wesam Ibrahim
|
|
|
25 |
1 |
|
artikel
|
| 139 |
Screening and identification of key biomarkers associated with endometriosis using bioinformatics and next-generation sequencing data analysis
|
Vastrad, Basavaraj
|
|
|
25 |
1 |
|
artikel
|
| 140 |
Screening of GHSR, GHRHR, GH1 genes in isolated growth hormone deficiency disease in Egyptian patients
|
Ammar, Tamer H. A.
|
|
|
25 |
1 |
|
artikel
|
| 141 |
Serum mir-31-5p is a reliable biomarker in patients with oral squamous cell carcinoma and oral lichen planus
|
Mohtasham, Nooshin
|
|
|
25 |
1 |
|
artikel
|
| 142 |
Study of the relationship between genetic variants of IL-18 and the occurrence of inflammatory bowel disease
|
Al-ardawy, Yahya Jaber
|
|
|
25 |
1 |
|
artikel
|
| 143 |
System biology approach to delineate expressional difference in the blood mononuclear cells between healthy and Turner syndrome individuals
|
Farooqui, Anam
|
|
|
25 |
1 |
|
artikel
|
| 144 |
Technologies of gene editing and related clinical trials for the treatment of genetic and acquired diseases: a systematic review
|
Sharaf-Eldin, Wessam
|
|
|
25 |
1 |
|
artikel
|
| 145 |
The causal relationship between anxiety and tinnitus severity: a Mendelian randomization study
|
Yang, Lili
|
|
|
25 |
1 |
|
artikel
|
| 146 |
The evaluation of IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms in Egyptian patients with alopecia areata: a case–control study
|
Mostafa, Maged
|
|
|
25 |
1 |
|
artikel
|
| 147 |
The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus
|
Sabzeghabaiean, Masoud
|
|
|
25 |
1 |
|
artikel
|
| 148 |
The IFIH1 gene variants rs1990760 and rs2111485 are associated with COVID-19 susceptibility and affect IFIH1 protein levels in Iraqis
|
Majeed, Abdulraheem Y.
|
|
|
25 |
1 |
|
artikel
|
| 149 |
The potential anticancer effect of bee venom in combination with sorafenib against HepG2 cell lines via induction of apoptosis and autophagy candidate genes
|
Nusair, Sara A.
|
|
|
25 |
1 |
|
artikel
|
| 150 |
The potentials of nonlinear polarization with hyperspectral imaging of RNA for hepatocellular carcinoma early diagnosis
|
El-Sharkawy, Yasser H.
|
|
|
25 |
1 |
|
artikel
|
| 151 |
The prevalence of SMN gene deletion/duplication in spinal muscular atrophy families referred to neuro-genetic centers of Mashhad, Iran
|
Shariati, Mohammad
|
|
|
25 |
1 |
|
artikel
|
| 152 |
The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
|
Sadek, Abdelrahim A.
|
|
|
25 |
1 |
|
artikel
|
| 153 |
The role of AGAP2-AS1, DLEU2, HMBOX1_1, and UGDH-AS1 in the progression of esophageal squamous cell carcinoma
|
Talebi, Samaneh
|
|
|
25 |
1 |
|
artikel
|
| 154 |
The significance of miRNA-191-5P and miRNA-24-3P as novel biomarkers for multiple sclerosis: a case–control study
|
Shaheen, Noha Mohamed Hosny
|
|
|
25 |
1 |
|
artikel
|
| 155 |
Transcriptomic analysis delineates potential regulatory network as therapeutic alternatives in chronic myeloid leukemia
|
Tasneem, Alvea
|
|
|
25 |
1 |
|
artikel
|
| 156 |
Turkish population-based screening for first identified changes of BRCA1 and BRCA2 genes in breast and/or ovarian cancer patients
|
Semerci Sevimli, Tuğba
|
|
|
25 |
1 |
|
artikel
|
| 157 |
UCP2 45-bp insertion/deletion polymorphism and obesity phenotype in the Lebanese population: a preliminary study
|
Masri, Baraa
|
|
|
25 |
1 |
|
artikel
|
| 158 |
Understanding integrative approach of translational bioinformatics on cardiovascular disease: Myocardial Ischemia
|
Ranganathan, Yeswanth
|
|
|
25 |
1 |
|
artikel
|
| 159 |
Unravelling variants in Farber disease: diagnostic and prenatal challenges in atypical presentations
|
Kumari, Pritti
|
|
|
25 |
1 |
|
artikel
|
| 160 |
VHL mutation as a cause of three generations familial pheochromocytoma
|
Moran-Espinosa, Mari Carmen
|
|
|
25 |
1 |
|
artikel
|
Tijdschrift beschrijving