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European Journal of Human Genetics : EJHG|May 28, 2015
Reanalysis of mGWAS results and in vitro validation show that lactate dehydrogenase interacts with branched-chain amino acid metabolismMattijs M Heemskerk, Vanessa J A van Harmelen, Ko Willems van Dijk, et al.
European Journal of Human Genetics : EJHG|May 28, 2015
High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testingLaura Pölsler, Heidi Fiegl, Katharina Wimmer, et al.
European Journal of Human Genetics : EJHG|May 28, 2015
Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndromeXue Jun Fu, Kandai Nozu, Hiroshi Kaito, et al.
European Journal of Human Genetics : EJHG|April 22, 2020
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplarShalaw R Sallah, Panagiotis I Sergouniotis, Stephanie Barton, et al.
European Journal of Human Genetics : EJHG|July 1, 1997
Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria populationL R Desviat, B Pérez, M J García, et al.
European Journal of Human Genetics : EJHG|July 1, 1997
Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathyK Pelin, M Ridanpää, K Donner, et al.
European Journal of Human Genetics : EJHG|July 1, 1997
Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their familiesS Abu-Amero, S Price, E Wakeling, et al.
European Journal of Human Genetics : EJHG|July 1, 1997
BOR and BO syndromes are allelic defects of EYA1C Vincent, V Kalatzis, S Abdelhak, et al.
European Journal of Human Genetics : EJHG|April 18, 2020
The uptake of predictive DNA testing in 40 families with a pathogenic BRCA1/BRCA2 variant. An evaluation of the proband-mediated procedureFred H Menko, Kiki N Jeanson, Eveline M A Bleiker, et al.
European Journal of Human Genetics : EJHG|August 17, 2021
Physicians' perceptions of the factors influencing disclosure of secondary findings in tumour genomic profiling in Japan: a qualitative studySaki Shimada, Takahiro Yamada, Miho Iwakuma, et al.
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