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European Journal of Human Genetics : EJHG|May 14, 2015
Genetics of GNE myopathy in the non-Jewish Persian populationAlireza Haghighi, Shahriar Nafissi, Abrar Qurashi, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9Emma Tham, Erik A Eklund, Anna Hammarsjö, et al.
European Journal of Human Genetics : EJHG|July 21, 2016
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistulaErwin Brosens, Florian Marsch, Elisabeth M de Jong, et al.
European Journal of Human Genetics : EJHG|May 7, 2015
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfectaKatarina Lindahl, Eva Åström, Carl-Johan Rubin, et al.
European Journal of Human Genetics : EJHG|May 7, 2015
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palateJeroen Breckpot, Britt-Marie Anderlid, Yasemin Alanay, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
Joubert syndrome: genotyping a Northern European patient cohortHester Y Kroes, Glen R Monroe, Bert van der Zwaag, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type BMariana Acuña, Pablo Martínez, Carol Moraga, et al.
European Journal of Human Genetics : EJHG|December 31, 1997
Genetic analysis by chromosome sorting and painting: phylogenetic and diagnostic applicationsM A Ferguson-Smith
European Journal of Human Genetics : EJHG|February 5, 1998
Quality guidelines and standards for genetic laboratories/clinics in prenatal diagnosis on fetal samples obtained by invasive procedures. An attempt to establish a common European framework for quality assessment. EUCROMIC Quality Assessment Group
European Journal of Human Genetics : EJHG|February 5, 1998
Non-participation in predictive testing for Huntington's disease: individual decision-making, personality and avoidant behaviour in the familyM Decruyenaere, G Evers-Kiebooms, A Boogaerts, et al.
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