1.
Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide
by Wilcken, B
Journal of medical genetics, 2003-08, Vol.40 (8), p.619-625
2.
Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways
by Girotto, Giorgia
Journal of medical genetics, 2011-06, Vol.48 (6), p.369-374
3.
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria
by Brooks-Wilson, A R
Journal of medical genetics, 2004-07, Vol.41 (7), p.508-517
4.
ARHGDIA: a novel gene implicated in nephrotic syndrome
by Gupta, Indra Rani
Journal of medical genetics, 2013-05, Vol.50 (5), p.330-338
5.
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation
by Abkevich, V
Journal of medical genetics, 2004-07, Vol.41 (7), p.492-507
6.
Angelman syndrome: a review of the clinical and genetic aspects
by Clayton-Smith, J
Journal of medical genetics, 2003-02, Vol.40 (2), p.87-95
7.
TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li–Fraumeni syndrome: impact on age at first diagnosis
by Marcel, V
Journal of medical genetics, 2009-11, Vol.46 (11), p.766-772
8.
Defining and managing incidental findings in genetic and genomic practice
by Shkedi-Rafid, Shiri
Journal of Medical Genetics, 2014-11, Vol.51 (11), p.715-723
9.
Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature
by Touitou, Isabelle
Journal of Medical Genetics, 2013-06, Vol.50 (6), p.349-359
10.
In vivo reversion to normal of inherited mutations in humans
by Hirschhorn, R
Journal of Medical Genetics, 2003-10, Vol.40 (10), p.721-728
11.
Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture
by Hwang, Joo-Yeon
Journal of medical genetics, 2013-04, Vol.50 (4), p.212-219
12.
Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme
by Amir, E
Journal of medical genetics, 2003-11, Vol.40 (11), p.807-814
13.
Rare and low-frequency variants in human common diseases and other complex traits
by Lettre, Guillaume
Journal of Medical Genetics, 2014-11, Vol.51 (11), p.705-714
14.
Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome
by Pilarski, R
Journal of medical genetics, 2004-05, Vol.41 (5), p.323-326
15.
Potential research participants support the return of raw sequence data
by Middleton, Anna
Journal of medical genetics, 2015-08, Vol.52 (8), p.571-574
16.
Human Gene Mutation Database: towards a comprehensive central mutation database
by Stenson, P D
Journal of medical genetics, 2008-02, Vol.45 (2), p.124-126
17.
Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies
by Qu, H Q
Journal of medical genetics, 2009-08, Vol.46 (8), p.553-554
18.
Streamlining review of research involving humans: Canadian models
by Zawati, Ma'n H
Journal of medical genetics, 2015-08, Vol.52 (8), p.566-569
19.
Genetic influences in gastro-oesophageal reflux disease: a twin study
by Mohammed, I
Gut, 2003-08, Vol.52 (8), p.1085-1089
20.
Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias
by Reid, E
Journal of medical genetics, 2003-02, Vol.40 (2), p.81-86
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