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European Journal of Human Genetics : EJHG|June 21, 2020
Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challengesMelissa Hill, Jennifer Hammond, Celine Lewis, et al.
European Journal of Human Genetics : EJHG|August 17, 2022
Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorderKingsley Wong, Mohammed Junaid, Scott Demarest, et al.
European Journal of Human Genetics : EJHG|December 9, 2004
Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) geneThomas Eggermann, Klaus Zerres, Dirk Anhuf, et al.
European Journal of Human Genetics : EJHG|February 11, 2005
Association between SLC11A1 (formerly NRAMP1) and the risk of sarcoidosis in PolandAnna Dubaniewicz, Sarra E Jamieson, M Dubaniewicz-Wybieralska, et al.
European Journal of Human Genetics : EJHG|June 17, 2004
CTLA4 +49 A/G and CT60 polymorphisms in Dutch coeliac disease patientsMartine J van Belzen, Chris J J Mulder, Alexandra Zhernakova, et al.
European Journal of Human Genetics : EJHG|July 22, 2004
A trio family study showing association of the lymphotoxin-alpha N26 (804A) allele with coronary artery disease
European Journal of Human Genetics : EJHG|July 22, 2004
Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutationShui-Liang Yu, Lei Jin, Man-Sun Sy, et al.
European Journal of Human Genetics : EJHG|July 9, 2004
Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosisHenkjan Gellekink, Martin den Heijer, Leo A J Kluijtmans, et al.
European Journal of Human Genetics : EJHG|July 9, 2004
Familial correlations and inter-relationships of four asthma-associated quantitative phenotypes in 320 French EGEA families ascertained through asthmatic probandsEmmanuelle Bouzigon, Valérie Chaudru, Anne-Sophie Carpentier, et al.
European Journal of Human Genetics : EJHG|March 18, 2004
Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutationsDineke S Verbeek, Sytse J Piersma, Eric F A M Hennekam, et al.
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