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European Journal of Human Genetics : EJHG|January 24, 2013
Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous diseaseMarie J Stasia, Michèle Mollin, Cécile Martel, et al.
European Journal of Human Genetics : EJHG|January 17, 2013
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiencyLars Schlotawa, Karthikeyan Radhakrishnan, Matthias Baumgartner, et al.
European Journal of Human Genetics : EJHG|February 28, 2013
Association between a 15q25 gene variant, nicotine-related habits, lung cancer and COPD among 56,307 individuals from the HUNT study in NorwayMaiken E Gabrielsen, Pål Romundstad, Arnulf Langhammer, et al.
European Journal of Human Genetics : EJHG|February 28, 2013
The personal experience of parenting a child with juvenile Huntington's disease: perceptions across EuropeVirginia Eatough, Helen Santini, Christine Eiser, et al.
European Journal of Human Genetics : EJHG|February 28, 2013
The influence of clan structure on the genetic variation in a single Ghanaian villageHernando Sanchez-Faddeev, Jeroen Pijpe, Tom van der Hulle, et al.
European Journal of Human Genetics : EJHG|February 28, 2013
HLA-DQB1*02 and DQB1*06:03P are associated with peanut allergyAnne-Marie Madore, Vanessa T Vaillancourt, Yuka Asai, et al.
European Journal of Human Genetics : EJHG|May 31, 2012
Meta-analysis of genetic association studies under heterogeneityBinod Neupane, Mark Loeb, Sonia S Anand, et al.
European Journal of Human Genetics : EJHG|May 31, 2012
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2Erik-Jan Kamsteeg, Wolfram Kress, Claudio Catalli, et al.
European Journal of Human Genetics : EJHG|February 14, 2013
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disabilityReza Asadollahi, Beatrice Oneda, Frenny Sheth, et al.
European Journal of Human Genetics : EJHG|February 7, 2013
Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort studyPaul N Scriven, Frances A Flinter, Yakoub Khalaf, et al.
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