Digitale Bibliotheek
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                             118 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A comprehensive in silico analysis of structural and functional impacts of natural nonsynonymous SNPs in the ALDH2_HUMAN gene Mahmood Janlou, Mehr Ali

26 1 artikel
2 A comprehensive review on novel opportunities for Alzheimer therapy by targeting BIN1 Saha, Trina

26 1 artikel
3 ALG1-congenital disorder of glycosylation: report of clinical and genetic features of three new cases and review of literature Khaghani, Faeze

26 1 artikel
4 Alu insertion polymorphisms and susceptibility to metabolic syndrome in a Moroccan population Farhane, Hamid

26 1 artikel
5 A meta-analysis of whole blood transcriptome reveals genes associated with increased neutrophil activity and T cell suppression in sepsis Shruthi, T. N.

26 1 artikel
6 Analysis of genetic and pathologic association between diabetes mellitus and cervical cancer Gupta, Prakhar

26 1 artikel
7 An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus Noori, Homa

26 1 artikel
8 A novel missense pathogenic variant c.9455T > G (p.L3152R) in CDH23 underlies autosomal recessive non-syndromic hearing loss Sadeghian, Ladan

26 1 artikel
9 A novel NBN germline mutation as the likely inherited etiology of various cancer types in an Iranian family Sarmadi, Akram

26 1 artikel
10 A novel noncanonical splicing pathogenic variant in PAX3 associated with Waardenburg Syndrome type 1 in an Iranian family Soosanabadi, Mohsen

26 1 artikel
11 Assessing the association of rare MDR1 variants (rs944806668, rs1816042256, and rs1295312177) with steroid response in Iraqi children with idiopathic nephrotic syndrome Abd Alridha, Ali Mohammed

26 1 artikel
12 Association between CAPN-10 gene variant and diabetes mellitus in Nigeria: a review Adebo, David Olufemi

26 1 artikel
13 Association between male (in)fertility and telomeric dysfunction: a systematic review and meta-analysis Patel, Sunny Kumar Jignesh Kumar

26 1 artikel
14 Association of caspase 7 rs12415607 gene polymorphism with cerebral ischemic stroke risk in the population of Eastern Iran Yousefi-Roobiyat, Maryam

26 1 artikel
15 Association of CCR2 and AGT gene variants with lipid profiles and cardiovascular risk factors in coronary artery disease patients Eba, Ale

26 1 artikel
16 Association of functional variants in miRNA genes with the risk of coronary heart disease Haq, Taqweem Ul

26 1 artikel
17 Association of IL-17A gene polymorphism rs2275913 with rheumatoid arthritis susceptibility in Iranian patients Khojasteh, Mozhgan

26 1 artikel
18 Association of IL6 −174G > C and IL10 −1082A > G genetic polymorphisms with cervical insufficiency in the Turkish population Karakus, Nevin

26 1 artikel
19 Association of miR polymorphisms with coronary artery disease risk: a comprehensive meta-analysis Subramanian, Vinodhini

26 1 artikel
20 Association of tumour necrosis factor-alpha (rs1800629 and rs361525) gene polymorphisms with tuberculosis susceptibility: a meta-analysis Jayakumar, V.

26 1 artikel
21 Association of VEGF promoter polymorphisms with gastrointestinal tract cancer risk and therapy response: a systematic review Mahajan, Deepanshi

26 1 artikel
22 Autosomal dominant macrocephaly, acquired with impaired intellectual development: a report of an ultra-rare disease Yahya, Dinnar

26 1 artikel
23 Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran Todarbary, Nafiseh

26 1 artikel
24 Bioinformatics analysis for immune hub genes in BLIS subtype of triple-negative breast cancer Adel, Hend

26 1 artikel
25 Bioinformatics-driven identification of key non-invasive prognostic biomarkers in hepatocellular carcinoma Abdullah-Zawawi, Muhammad-Redha

26 1 artikel
26 Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia Tonyan, Ziravard N.

26 1 artikel
27 Characterization and identification of RET gene variations in children with Hirschsprung disease Singh, Ripudaman

26 1 artikel
28 Classification of patients with lithium-treated bipolar disorder based on gene expression: Dirichlet Bayesian network model Salari, Nader

26 1 artikel
29 Computer-guided identification of novel inhibitors of apoptosis-signaling kinase 1 from Spondia mombim bioactive compounds against colorectal cancer Elekofehinti, Olusola Olalekan

26 1 artikel
30 Correction: Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran Todarbary, Nafseh

26 1 artikel
31 Correction: Understanding integrative approach of translational bioinformatics on cardiovascular disease: Myocardial Ischemia Ranganathan, Yeswanth

26 1 artikel
32 Craniofacial genetics as a differential identification tool: analysis of a subset of Yoruba-speaking population in Nigeria Kareem, Suwebat Bidemi

26 1 artikel
33 Decoding the FSHR gene: a multi-tool computational approach to SNPs with potential application in PCOS Patel, Dolly J.

26 1 artikel
34 Determination of damaging SNP’s in SHANK3 gene with in silico methods Albayrak, İrem Gülfem

26 1 artikel
35 Dual insights into gastric cancer: expression analysis and prognostic relevance of glutathione peroxidases Zhang, Biyu

26 1 artikel
36 Effect of HER2 Ile655Val polymorphism on the response to trastuzumab treatment in HER2-positive breast cancer patients Gheibipour, Zohreh

26 1 artikel
37 Evaluation of different in silico tools for the assessment of deleterious variants in acute myeloid leukemia Qureshi, Wardah

26 1 artikel
38 Evaluation of lncRNA SOX2OT gene expression in breast cancer patients and its association with prognosis of disease: a paired sample study Yousefi, Mahshid

26 1 artikel
39 Evaluation of pathogenic variant in WFS1 in a patient with Wolfram syndrome Hoseinzadeh, Marziyeh

26 1 artikel
40 Evaluation of the mutation profile detected in lung adenocarcinomas with different N status Akin, Dilara

26 1 artikel
41 Exploration of the genetic and environmental determinants of male infertility: a comprehensive review Imran, Muhammad

26 1 artikel
42 Exploring the effects of alpha-pinene on apoptosis induction in human colon cancer cells via the PI3K/AKT signaling pathway: an in vitro study Shafieipour, Sara

26 1 artikel
43 Expression levels of taste genes, TAS1R1, TAS1R2 and TAS1R3 among SARS-CoV-2 patients Behboudi, Emad

26 1 artikel
44 Expression of GRK4 in hepatocellular carcinoma and its correlation with patient prognosis Luo, Yunxiu

26 1 artikel
45 Eye and bone involvement is not always osteogenesis imperfecta: unravelling the second case of spondyloocular syndrome from India Qadir, Ajaz

26 1 artikel
46 Factor V Leiden and MTHFR C677 T polymorphisms and inflammation markers in diabetic retinopathy patients Rahimi, Atefeh

26 1 artikel
47 From biogenesis to biomarkers: the role of piRNAs and PIWI proteins in cervical cancer and beyond Pratap, Pushpendra D.

26 1 artikel
48 Gene co-expression module study identifies key genes and pathways underpinning hypercholesterolemia-induced atherosclerosis development Abdullah-Zawawi, Muhammad-Redha

26 1 artikel
49 Genetic and epigenetic components involved in the crossroads of periodontitis and common cancer types associated with periodontitis Priyadharsini, Jayaseelan Vijayashree

26 1 artikel
50 Genetic and infectious determinants of puerperal fever: a study of viral and bacterial coinfections in postpartum women Olaniyan, Mathew Folaranmi

26 1 artikel
51 Genetic association of toll like receptors and breast cancer: a novel approach toward countering the breast cancer tumor invasiveness and recurrence Das, Avishek

26 1 artikel
52 Genetic insights from whole-exome sequencing in Moroccan patients with non-small cell lung cancer: a case report Fakhkhari, Meryem

26 1 artikel
53 Genetic screening of ATP7B gene in Iranian Wilson disease patients: a diverse landscape of pathogenic variants Hashemi, Seyyed-Saleh

26 1 artikel
54 Genetics of type 2 diabetes (T2D) in Malaysia: a review Mohd Redzuan, Nurul Humaira

26 1 artikel
55 Genetic variants of leptin receptor gene (rs1137101) and obesity risk in prakriti individuals and its pathogenicity prediction using in silico approaches Murugan, Manoranjani

26 1 artikel
56 Homoplasmic m.591C >T variant in the mitochondrial MT-TF exhibits phenotypic heterogeneity: a family report Fan, Shanshan

26 1 artikel
57 Homozygous deletion of the DPY19L2 gene as a major genetic cause of globozoospermia: a case report from Senegal Diallo, Thierno Abdoulaye

26 1 artikel
58 Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome Bahadoran, Ensiyeh

26 1 artikel
59 Identification of a compound heterozygous mutation in GDAP1 gene in a consanguineous South Indian family with Charcot–Marie–Tooth (CMT) Disease Kirola, Laxmi

26 1 artikel
60 Identification of high confidence genes involved in the manifestation of ventricular septal defect Shanthithadda, Chaithra

26 1 artikel
61 Identification of novel diagnostic biomarkers in stages I-IV colorectal cancer Sadighi, Sarvin Alizadeh

26 1 artikel
62 Impact of ABO gene polymorphism and von Willebrand factor on genetic susceptibility to acute lymphoblastic leukemia in Egyptian pediatric patients Salim, Elsayed I.

26 1 artikel
63 Impact of cigarette smoking on neurotrophic factors: insight to BDNF, GDNF, and NGF alterations Miladpour, Behnoosh

26 1 artikel
64 Implications of cytokine genes polymorphisms in Jordanian patients with obsessive compulsive disorder Khalil, Ahmad M.

26 1 artikel
65 In silico analysis of hub genes and regulatory networks implicates the putamen in non-motor Parkinson’s disease disorders Akanbi, Stephen Tunmise

26 1 artikel
66 In silico analysis of non-synonymous single nucleotide polymorphisms of human ABCD1 gene associated with adrenoleukodystrophy Reshmi, R.

26 1 artikel
67 In silico analysis of SNPs and miRNAs of KCTD13, CSDE1, SLC6A1 genes associated with autism spectrum disorder Çoruh Kınalı, Kübra

26 1 artikel
68 In silico study identifies hub genes and regulatory network associated with the pathogenesis of Japanese encephalitis virus Kumar, Arvind

26 1 artikel
69 Integrative transcriptome profiling for identifying ALS potential treatment using the drug repurposing approach Kashani, Navid

26 1 artikel
70 Investigating the association between rs361525 promotor polymorphism with risk of multiple sclerosis: a meta-analysis Kumar, H. R. Vinoda

26 1 artikel
71 Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants Singh, Amit

26 1 artikel
72 MicroRNA-27a gene polymorphism (rs895819) association with risk of pulmonary tuberculosis (PTB): A case–control study Arabshahi, Alireza

26 1 artikel
73 MIRAGE syndrome: a case report of de novo SAMD9 c.884del p.(Pro295GlnfsTer104) variant and a novel phenotype of pyloric stenosis Assker, Mohamad M.

26 1 artikel
74 Mitochondrial DNA HVRII (Poly-C) and HVRIII (Poly-CA) tandem repeat variation in the Koraga population Krishna, Swathy

26 1 artikel
75 Molecular epidemiology and genotype distribution of genital high-risk human papillomavirus among women in North–East India Ray, Jayanta

26 1 artikel
76 Molecular mavericks: unveiling the matrix metalloproteinase gene’s role in ovarian cancer Bindhu, Devi Krishna Ratnakaran

26 1 artikel
77 MTRR gene polymorphisms among Egyptian children with acyanotic congenital heart diseases: a case–control study Shehata, Basma M.

26 1 artikel
78 Mutation spectrum in epilepsy and seizure disorders in a group of Emirati patients: a retrospective cohort study and literature review AlShamsi, Aisha

26 1 artikel
79 Nanotherapeutic interventions to enhance cisplatin sensitivity in ovarian cancer cells Mittal, Disha

26 1 artikel
80 Non-coding RNAs and exosomal ncRNAs in colorectal cancer Zhoulideh, Yalda

26 1 artikel
81 Novel co-occurrence of SLC26A4 and KCTD7 variants in a pediatric patient with syndromic hearing loss and myoclonic epilepsy Shariatmadari, Fakhreddin

26 1 artikel
82 Pathogenesis and genetics of celiac disease; a systematic review Ahmadzadeh, Alireza

26 1 artikel
83 Pathogenic effects of telomerase reverse transcriptase (TERT) promoter mutations in nonalcoholic steatohepatitis (NASH) related hepatocellular carcinoma (HCC) and its potentials as a diagnostic biomarker Umar Liman, Usman

26 1 artikel
84 Polymorphism rs259983 of the ZNF831 gene is associated with the risk of anemia in pregnant women with gestational diabetes Karpova, Nataliia

26 1 artikel
85 Potential prognostic role of serum miRNA-31 in head and neck cancer recurrence Hafezi Rad, Mojtaba

26 1 artikel
86 Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report Khudari, Lama

26 1 artikel
87 Prenatal diagnosis of a rare 1p36 heterochromatin variation with a ventricular septal defect in a twin pregnancy Wei, Xingye

26 1 artikel
88 Prevalence and characteristics of oral and dental anomalies in Tunisian individuals with Down syndrome: a descriptive study Boukhalfa, Yasmine

26 1 artikel
89 Prevalence of BRCA1 gene mutations in female breast cancer patients in Mazandaran Province, Northern Iran Jangjou, Masoumeh

26 1 artikel
90 PYGO2 as a tumor marker in low-grade renal cell carcinoma Golshan, Alireza

26 1 artikel
91 Pyrogallol acts as a novel anticancer factor to enhance the sensitivity to cisplatin in ovarian cancer cells through inducing miR-15a upregulation Shirani, Azin

26 1 artikel
92 Radiogenomic-based prediction of genetic alterations in oncogenic signaling pathways in lung cancer Jayachandran, Priyadharshini

26 1 artikel
93 Role of polymorphic variants of DNA repair genes XRCC7 and XPD toward susceptibility of systemic lupus erythematosus and rheumatoid arthritis: a case control study Mustafa, Mohannad Fawzy

26 1 artikel
94 SARE: an optimized method for detection functional regulatory elements in genome Hosseinpoor, Mohammadjavad

26 1 artikel
95 Significant association of hyperandrogenism and insulin resistance with the epigenetic alterations in PPARG1 gene in granulosa cells of PCOS females Dashti, Zahra

26 1 artikel
96 Sirtuin 1 expression in elderly patients with type 2 diabetes mellitus Hassaan, Mohamed M. M.

26 1 artikel
97 Study of hemostasis gene polymorphisms in patients with gout Turdiqulovna, Akramova Nigora

26 1 artikel
98 TCF7L2 gene rs7903146 and rs12255372 polymorphism is not associated with gestational diabetes in Bangladeshi women Tofail, Tania

26 1 artikel
99 β-thalassemia due to de novo mutation IVS1-5(G > C) at HBB gene in three cases from West Bengal Shaw, Jyoti

26 1 artikel
100 The causal association between temporomandibular joint disorders and eating disorders: a bidirectional two-sample mendelian randomization study Halboub, Esam

26 1 artikel
101 The clinicopathological and prognostic significances of CMTM6 and PD-L1 expression in breast cancer Shi, Shuai

26 1 artikel
102 The comparison of IGFBP-5 expression level in Pancreatic ductal adenocarcinoma tumors and their normal adjacent tissues Ghate, Jafar Karim

26 1 artikel
103 The genetic architecture of neurological disorders: an integrated review Gupta, Aayushi

26 1 artikel
104 The Impact of Hydrogen Sulfide Regulatory Gene Alterations on Head and neck squamous cell carcinoma prognosis and tumor microenvironment Ghouse, Mohamed Rizwan

26 1 artikel
105 The relationship between gallstone disease and the genetic variants of the sterol transporter adenosine triphosphate–binding cassette G8 and G5 in Egyptians Hassan, Menna A.

26 1 artikel
106 Three siblings with giant axonal neuropathy caused by a novel variant in GAN gene: the first report from Egypt Sadek, Abdelrahim A.

26 1 artikel
107 Timing of gene expression alters susceptibility to aflatoxicosis: a heterogeneous spectrum of disease in response to a single universal agent Kotb, Magd Ahmed

26 1 artikel
108 Towards personalized prostate cancer treatment with docetaxel in indonesia: a pharmacogenomics perspective Malau, Jekmal

26 1 artikel
109 Unraveling hereditary breast cancer susceptibility: a systems biology approach on GEO datasets with functional genomic insights and implications for traditional Chinese medicine Amjad, Elham

26 1 artikel
110 Unraveling relationship between the genetic polymorphism CYP2A13 and nicotine metabolism of male smokers in Medan, Indonesia Soeroso, Noni Novisari

26 1 artikel
111 Unraveling the roles of BMS1, ZNF749 and miR-6726-5p in MODS progression via integrated multiomics and ML-based approach Mathur, Dhairya

26 1 artikel
112 Unraveling the structural and functional consequences of non-synonymous single-nucleotide polymorphisms (nsSNPs) in human SOCS2: an in silico approach Hossain, Tanvir

26 1 artikel
113 Unravelling the genetic and epidemiological landscape of Handigodu syndrome in Southern India Siby, Cicil Elsa

26 1 artikel
114 Unveiling hepatitis B biomarkers through genomic network analysis Adikusuma, Wirawan

26 1 artikel
115 Unveiling the association between long non-coding RNAs (RP5-833A20.1, DYNLRB2-2, and APOA1-AS) and ischemic stroke: exploring biomarkers, and clinical implications Bayat, Mahnaz

26 1 artikel
116 Urinary stones as the initial presentation in a child with late-onset molybdenum cofactor deficiency type B: a case report and review of literature Sadek, Abdelrahim A.

26 1 artikel
117 Variants in SRY and NR5A1 Genes in Sri Lankan children with 46, XY disorders of sex development: insights into mutation spectrum and diagnostic potential Ferdinands, Daniel Sanjeev

26 1 artikel
118 Whole-exome sequencing and molecular dynamics confirm pathogenicity of a novel SLC6A6 mutation in Leber congenital amaurosis Natarajan, Srikrupa N.

26 1 artikel
                             118 gevonden resultaten
 
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