| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A cautionary note on the impact of protocol changes for genome-wide association SNP × SNP interaction studies: an example on ankylosing spondylitis
|
Bessonov, Kyrylo
|
|
2015
|
|
7 |
p. 761-773
|
artikel
|
| 2 |
A commonly occurring genetic variant within the NPLOC4–TSPAN10–PDE6G gene cluster is associated with the risk of strabismus
|
Plotnikov, Denis
|
|
2019
|
|
7 |
p. 723-737
|
artikel
|
| 3 |
Admixture mapping identifies African and Amerindigenous local ancestry loci associated with fetal growth
|
Tekola-Ayele, Fasil
|
|
|
|
7 |
p. 985-997
|
artikel
|
| 4 |
A functional variant of the collagen type III alpha1 gene modify risk of sporadic intracranial aneurysms
|
Chen, Jingzhou
|
|
2012
|
|
7 |
p. 1137-1143
|
artikel
|
| 5 |
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition
|
Shaheen, Ranad
|
|
2016
|
|
7 |
p. 707-713
|
artikel
|
| 6 |
A human rights approach to an international code of conduct for genomic and clinical data sharing
|
Knoppers, Bartha M.
|
|
2014
|
|
7 |
p. 895-903
|
artikel
|
| 7 |
Alison Thomas: Introducing Genetics
|
Russ, Sophie
|
|
2015
|
|
7 |
p. 813
|
artikel
|
| 8 |
Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21
|
Oliver, Tiffany Renee
|
|
2011
|
|
7 |
p. 1039-1046
|
artikel
|
| 9 |
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome
|
Lorès, Patrick
|
|
|
|
7 |
p. 1031-1043
|
artikel
|
| 10 |
A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer’s disease
|
Butler, Joe M.
|
|
2015
|
|
7 |
p. 705-715
|
artikel
|
| 11 |
A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature
|
Uehara, Daniela Tiaki
|
|
|
|
7 |
p. 1047-1060
|
artikel
|
| 12 |
A multi-ethnic study of a PNPLA3 gene variant and its association with disease severity in non-alcoholic fatty liver disease
|
Zain, Shamsul Mohd
|
|
2012
|
|
7 |
p. 1145-1152
|
artikel
|
| 13 |
Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid–aneuploid blastocysts
|
Fragouli, Elpida
|
|
2017
|
|
7 |
p. 805-819
|
artikel
|
| 14 |
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
|
Koczkowska, Magdalena
|
|
|
|
7 |
p. 849-861
|
artikel
|
| 15 |
A narrow heritability evaluation of gestational age at birth
|
York, Timothy P.
|
|
2015
|
|
7 |
p. 809-811
|
artikel
|
| 16 |
An assessment of gene-by-gene interactions as a tool to unfold missing heritability in dyslexia
|
Mascheretti, S.
|
|
2015
|
|
7 |
p. 749-760
|
artikel
|
| 17 |
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability
|
Labonne, Jonathan D. J.
|
|
2016
|
|
7 |
p. 757-771
|
artikel
|
| 18 |
Anchored pseudo-de novo assembly of human genomes identifies extensive sequence variation from unmapped sequence reads
|
Faber-Hammond, Joshua J.
|
|
2016
|
|
7 |
p. 727-740
|
artikel
|
| 19 |
An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene
|
Rodríguez-García, María Elena
|
|
2017
|
|
7 |
p. 885-896
|
artikel
|
| 20 |
A null mutation in TNIK defines a novel locus for intellectual disability
|
Anazi, Shams
|
|
2016
|
|
7 |
p. 773-778
|
artikel
|
| 21 |
A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism
|
Pillar, Nir
|
|
2017
|
|
7 |
p. 835-845
|
artikel
|
| 22 |
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness
|
Knierim, Ellen
|
|
2017
|
|
7 |
p. 903-910
|
artikel
|
| 23 |
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer
|
Kang, James J.
|
|
2016
|
|
7 |
p. 675-684
|
artikel
|
| 24 |
Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study
|
Lindström, Sara
|
|
2017
|
|
7 |
p. 897-902
|
artikel
|
| 25 |
Assessing the genetic architecture of epithelial ovarian cancer histological subtypes
|
Cuellar-Partida, Gabriel
|
|
2016
|
|
7 |
p. 741-756
|
artikel
|
| 26 |
Association and interaction analyses of 5-HT3 receptor and serotonin transporter genes with alcohol, cocaine, and nicotine dependence using the SAGE data
|
Yang, Jiekun
|
|
2014
|
|
7 |
p. 905-918
|
artikel
|
| 27 |
Association between common alcohol dehydrogenase gene (ADH) variants and schizophrenia and autism
|
Zuo, Lingjun
|
|
2013
|
|
7 |
p. 735-743
|
artikel
|
| 28 |
Association between gout and polymorphisms in GCKR in male Han Chinese
|
Wang, Jing
|
|
2012
|
|
7 |
p. 1261-1265
|
artikel
|
| 29 |
Association of PDE4B polymorphisms and schizophrenia in Northwestern Han Chinese
|
Guan, Fanglin
|
|
2011
|
|
7 |
p. 1047-1056
|
artikel
|
| 30 |
Biological findings from the PheWAS catalog: focus on connective tissue-related disorders (pelvic floor dysfunction, abdominal hernia, varicose veins and hemorrhoids)
|
Salnikova, Lyubov E.
|
|
2016
|
|
7 |
p. 779-795
|
artikel
|
| 31 |
Characterization of mitochondrial haplogroups in a large population-based sample from the United States
|
Mitchell, Sabrina L.
|
|
2014
|
|
7 |
p. 861-868
|
artikel
|
| 32 |
Characterization of the DYX2 locus on chromosome 6p22 with reading disability, language impairment, and IQ
|
Eicher, John D.
|
|
2014
|
|
7 |
p. 869-881
|
artikel
|
| 33 |
Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome
|
Sarasua, Sara M.
|
|
2014
|
|
7 |
p. 847-859
|
artikel
|
| 34 |
Cognitive and serum BDNF correlates of BDNF Val66Met gene polymorphism in patients with schizophrenia and normal controls
|
Zhang, Xiang Yang
|
|
2012
|
|
7 |
p. 1187-1195
|
artikel
|
| 35 |
Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract
|
Agrawal, Smriti A.
|
|
2015
|
|
7 |
p. 717-735
|
artikel
|
| 36 |
Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants
|
Markunas, Christina A.
|
|
2017
|
|
7 |
p. 911-919
|
artikel
|
| 37 |
Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study
|
Beaty, T. H.
|
|
2013
|
|
7 |
p. 771-781
|
artikel
|
| 38 |
Consistency of genome-wide associations across major ancestral groups
|
Ntzani, Evangelia E.
|
|
2011
|
|
7 |
p. 1057-1071
|
artikel
|
| 39 |
Copy number variation in the human Y chromosome in the UK population
|
Wei, Wei
|
|
2015
|
|
7 |
p. 789-800
|
artikel
|
| 40 |
Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome
|
Lorès, Patrick
|
|
|
|
7 |
p. 1045
|
artikel
|
| 41 |
Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer
|
Bien, Stephanie A.
|
|
2019
|
|
7 |
p. 789-791
|
artikel
|
| 42 |
Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing
|
Núñez-Moreno, Gonzalo
|
|
|
|
7 |
p. 995
|
artikel
|
| 43 |
CRISPR/Cas9-mediated somatic and germline gene correction to restore hemostasis in hemophilia B mice
|
Huai, Cong
|
|
2017
|
|
7 |
p. 875-883
|
artikel
|
| 44 |
CUBN and NEBL common variants in the chromosome 10p13 linkage region are associated with multibacillary leprosy in Vietnam
|
Grant, Audrey V.
|
|
2014
|
|
7 |
p. 883-893
|
artikel
|
| 45 |
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency
|
Bakhshalizadeh, Shabnam
|
|
|
|
7 |
p. 879-907
|
artikel
|
| 46 |
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues
|
Smits, Daphne J.
|
|
|
|
7 |
p. 949-964
|
artikel
|
| 47 |
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
|
Okur, Volkan
|
|
2016
|
|
7 |
p. 699-705
|
artikel
|
| 48 |
Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy
|
Viggiano, Emanuela
|
|
2016
|
|
7 |
p. 685-698
|
artikel
|
| 49 |
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study
|
Mergnac, Jean-Philippe
|
|
|
|
7 |
p. 1269-1278
|
artikel
|
| 50 |
Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences
|
Bhatia, Shipra
|
|
2014
|
|
7 |
p. 815-845
|
artikel
|
| 51 |
Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis
|
Classen, Carl Friedrich
|
|
2013
|
|
7 |
p. 825-841
|
artikel
|
| 52 |
Effects of MAOA promoter methylation on susceptibility to paranoid schizophrenia
|
Chen, Yanbo
|
|
2011
|
|
7 |
p. 1081-1087
|
artikel
|
| 53 |
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes
|
Guéant, Jean-Louis
|
|
|
|
7 |
p. 1309-1325
|
artikel
|
| 54 |
Erratum to: Association between gout and polymorphisms in GCKR in male Han Chinese
|
Wang, Jing
|
|
2012
|
|
7 |
p. 1267
|
artikel
|
| 55 |
Erratum to: Copy number variation in the human Y chromosome in the UK population
|
Wei, Wei
|
|
2015
|
|
7 |
p. 801
|
artikel
|
| 56 |
Erratum to: Global skin colour prediction from DNA
|
Walsh, Susan
|
|
2017
|
|
7 |
p. 865-866
|
artikel
|
| 57 |
Erratum to: Sex- and age-dependent DNA methylation at the 17q12-q21 locus associated with childhood asthma
|
Naumova, Anna K.
|
|
2013
|
|
7 |
p. 823
|
artikel
|
| 58 |
Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information
|
Graziano, Francesca
|
|
2019
|
|
7 |
p. 739-748
|
artikel
|
| 59 |
Evolutionary genetics of the human Rh blood group system
|
Perry, George H.
|
|
2012
|
|
7 |
p. 1205-1216
|
artikel
|
| 60 |
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway
|
Renard, Emeline
|
|
2019
|
|
7 |
p. 703-713
|
artikel
|
| 61 |
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
|
Järvelä, Irma
|
|
|
|
7 |
p. 1011-1029
|
artikel
|
| 62 |
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
|
Basel-Vanagaite, Lina
|
|
2014
|
|
7 |
p. 939-949
|
artikel
|
| 63 |
Exploiting aberrant mRNA expression in autism for gene discovery and diagnosis
|
Guan, Jinting
|
|
2016
|
|
7 |
p. 797-811
|
artikel
|
| 64 |
FCGR3A and FCGR3B copy number variations are risk factors for sarcoidosis
|
Wu, Jianming
|
|
2016
|
|
7 |
p. 715-725
|
artikel
|
| 65 |
Gene-based association study reveals a distinct female genetic signal in primary hypertension
|
Zucker, Roei
|
|
|
|
7 |
p. 863-878
|
artikel
|
| 66 |
Genetic association between human chitinases and lung function in COPD
|
Aminuddin, F.
|
|
2011
|
|
7 |
p. 1105-1114
|
artikel
|
| 67 |
Genetic variant in TP63 on locus 3q28 is associated with risk of lung adenocarcinoma among never-smoking females in Asia
|
Hosgood, H. Dean
|
|
2012
|
|
7 |
p. 1197-1203
|
artikel
|
| 68 |
Genetic variants of the MRC1 gene and the IFNG gene are associated with leprosy in Han Chinese from Southwest China
|
Wang, Dong
|
|
2012
|
|
7 |
p. 1251-1260
|
artikel
|
| 69 |
Genome-wide association studies identified novel loci for non-high-density lipoprotein cholesterol and its postprandial lipemic response
|
An, Ping
|
|
2014
|
|
7 |
p. 919-930
|
artikel
|
| 70 |
Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan
|
Kitamoto, Takuya
|
|
2013
|
|
7 |
p. 783-792
|
artikel
|
| 71 |
Genome-wide two-locus epistasis scans in prostate cancer using two European populations
|
Tao, Sha
|
|
2012
|
|
7 |
p. 1225-1234
|
artikel
|
| 72 |
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
|
D’Onofrio, Gianluca
|
|
|
|
7 |
p. 909-925
|
artikel
|
| 73 |
Geographic variation in the polygenic score of height in Japan
|
Isshiki, Mariko
|
|
|
|
7 |
p. 1097-1108
|
artikel
|
| 74 |
Global skin colour prediction from DNA
|
Walsh, Susan
|
|
2017
|
|
7 |
p. 847-863
|
artikel
|
| 75 |
GWAS-linked GAK locus in Parkinson’s disease in Han Chinese and meta-analysis
|
Li, Nan-Nan
|
|
2011
|
|
7 |
p. 1089-1093
|
artikel
|
| 76 |
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
|
Bramswig, Nuria C.
|
|
2017
|
|
7 |
p. 821-834
|
artikel
|
| 77 |
How to fix a broken protein: restoring function to mutant human cystathionine β-synthase
|
Kruger, Warren D.
|
|
|
|
7 |
p. 1299-1308
|
artikel
|
| 78 |
Human primary biliary cirrhosis-susceptible allele of rs4979462 enhances TNFSF15 expression by binding NF-1
|
Hitomi, Yuki
|
|
2015
|
|
7 |
p. 737-747
|
artikel
|
| 79 |
Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping
|
Guéant, Jean-Louis
|
|
|
|
7 |
p. 1235-1237
|
artikel
|
| 80 |
Insights into the pathogenicity of missense variants in the forkhead domain of FOX proteins underlying Mendelian disorders
|
Bermúdez-Guzmán, Luis
|
|
|
|
7 |
p. 999-1010
|
artikel
|
| 81 |
Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines
|
Berlivet, Soizik
|
|
2012
|
|
7 |
p. 1161-1171
|
artikel
|
| 82 |
Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger: Bone dysplasias: an atlas of genetic disorders of skeletal development
|
Smithson, Sarah
|
|
2019
|
|
7 |
p. 787
|
artikel
|
| 83 |
Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family
|
Pathak, Anand
|
|
2015
|
|
7 |
p. 775-787
|
artikel
|
| 84 |
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation
|
Blommaert, Eline
|
|
|
|
7 |
p. 1279-1286
|
artikel
|
| 85 |
LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z−) agrin
|
Maselli, Ricardo A.
|
|
2011
|
|
7 |
p. 1123-1135
|
artikel
|
| 86 |
Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population
|
Hu, Zhengmao
|
|
2012
|
|
7 |
p. 1269-1274
|
artikel
|
| 87 |
Mind the gap: resources required to receive, process and interpret research-returned whole genome data
|
Crawford, Dana C.
|
|
2019
|
|
7 |
p. 691-701
|
artikel
|
| 88 |
Misassembly of long reads undermines de novo-assembled ethnicity-specific genomes: validation in a Chinese Han population
|
Mai, Zhibiao
|
|
2019
|
|
7 |
p. 757-769
|
artikel
|
| 89 |
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
|
Parenti, Ilaria
|
|
|
|
7 |
p. 1109-1120
|
artikel
|
| 90 |
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients
|
Jakubiczka-Smorag, Joanna
|
|
2016
|
|
7 |
p. 813-826
|
artikel
|
| 91 |
Multivariate eQTL mapping uncovers functional variation on the X-chromosome associated with complex disease traits
|
Brumpton, Ben M.
|
|
2016
|
|
7 |
p. 827-839
|
artikel
|
| 92 |
Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors
|
Mills, Melissa B.
|
|
2011
|
|
7 |
p. 1115-1122
|
artikel
|
| 93 |
Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective
|
Foo, Jia Nee
|
|
2013
|
|
7 |
p. 721-734
|
artikel
|
| 94 |
NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy
|
Jiang, Yuwu
|
|
2012
|
|
7 |
p. 1217-1224
|
artikel
|
| 95 |
Obesity-related genetic variants, human pigmentation, and risk of melanoma
|
Li, Xin
|
|
2013
|
|
7 |
p. 793-801
|
artikel
|
| 96 |
Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy
|
Xu, Hongliang
|
|
2019
|
|
7 |
p. 749-756
|
artikel
|
| 97 |
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review
|
Matmat, Karim
|
|
|
|
7 |
p. 1239-1251
|
artikel
|
| 98 |
Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity
|
Dominguez, I.
|
|
|
|
7 |
p. 1077-1096
|
artikel
|
| 99 |
OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans
|
Quillen, Ellen E.
|
|
2011
|
|
7 |
p. 1073-1080
|
artikel
|
| 100 |
Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution
|
Fiddes, Ian T.
|
|
2019
|
|
7 |
p. 715-721
|
artikel
|
| 101 |
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
|
Li, Dong
|
|
|
|
7 |
p. 1061-1076
|
artikel
|
| 102 |
Peter S. Harper: obituary
|
Clarke, Angus J.
|
|
|
|
7 |
p. 981-983
|
artikel
|
| 103 |
Polymorphisms in the XPG gene and risk of gastric cancer in Chinese populations
|
He, Jing
|
|
2012
|
|
7 |
p. 1235-1244
|
artikel
|
| 104 |
Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery
|
Aryal, Sandeep
|
|
|
|
7 |
p. 927-947
|
artikel
|
| 105 |
Randall H. Morse (ed.): Chromatin remodelling: methods and protocols
|
Waters, Raymond
|
|
2012
|
|
7 |
p. 1275
|
artikel
|
| 106 |
Recursive organizer (ROR): an analytic framework for sequence-based association analysis
|
Zhao, Lue Ping
|
|
2013
|
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7 |
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