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European Journal of Human Genetics : EJHG|February 5, 1998
Werner syndrome: characterization of mutations in the WRN gene in an affected familyC Meisslitzer, W Ruppitsch, H Weirich-Schwaiger, et al.
European Journal of Human Genetics : EJHG|February 5, 1998
Juvenile and adult hemochromatosis are distinct genetic disordersC Camaschella, A Roetto, M Cicilano, et al.
European Journal of Human Genetics : EJHG|February 5, 1998
A molecular survey of phenylketonuria in Iceland: identification of a founding mutation and evidence of predominant Norse settlementP Guldberg, J Zschocke, A Dagbjartsson, et al.
European Journal of Human Genetics : EJHG|February 5, 1998
Haemoglobin D-Ouled Rabah among the Mozabites: a relevant variant to trace the origin of Berber-speaking populationsT Merghoub, A Sanchez-Mazas, R Tamouza, et al.
European Journal of Human Genetics : EJHG|May 1, 1997
Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chainL Nuytinck, K Wettinck, M Freund, et al.
European Journal of Human Genetics : EJHG|April 23, 2015
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndromeAlessandro Mussa, Silvia Russo, Agostina De Crescenzo, et al.
European Journal of Human Genetics : EJHG|August 4, 2016
A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiencyCarola Hedberg-Oldfors, Niklas Darin, Mia Olsson Engman, et al.
European Journal of Human Genetics : EJHG|August 4, 2016
Lack of gene-language correlation due to reciprocal female but directional male admixture in Austronesians and non-Austronesians of East TimorSibylle M Gomes, Mannis van Oven, Luis Souto, et al.
European Journal of Human Genetics : EJHG|August 13, 2016
New challenges for BRCA testing: a view from the diagnostic laboratoryAndrew J Wallace
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
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