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European Journal of Human Genetics : EJHG|January 8, 2015
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failureMaria Andrea Desbats, Annalisa Vetro, Ivan Limongelli, et al.
European Journal of Human Genetics : EJHG|September 3, 2015
Health professionals' opinions on supporting a cancer biobank: identification of barriers to combat biobanking pitfallsNicole J Caixeiro, Hei Lan Byun, Joseph Descallar, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
Effect of six type II diabetes susceptibility loci and an FTO variant on obesity in Pakistani subjectsShabana, Saleem Ullah Shahid, Ka Wah Li, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
Mosaic parental germline mutations causing recurrent forms of malformations of cortical developmentJulia Lauer Zillhardt, Karine Poirier, Loïc Broix, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
Patient hopes for diagnostic genomic sequencing: roles of uncertainty and social statusCynthia M Khan, Elizabeth G Moore, Cristina Leos, et al.
European Journal of Human Genetics : EJHG|August 6, 2015
No significant impact of IFN-γ pathway gene variants on tuberculosis susceptibility in a West African populationChristian G Meyer, Christopher D Intemann, Birgit Förster, et al.
European Journal of Human Genetics : EJHG|January 28, 2016
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseGina L O'Grady, Alan Ma, Deborah Sival, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemiaHélène Cavé, Aurélie Caye, Nehla Ghedira, et al.
European Journal of Human Genetics : EJHG|January 7, 2016
The HLA-DQβ1 insertion is a strong achalasia risk factor and displays a geospatial north-south gradient among EuropeansJessica Becker, Stephan L Haas, Anna Mokrowiecka, et al.
European Journal of Human Genetics : EJHG|January 7, 2016
Common coding variants in the HLA-DQB1 region confer susceptibility to age-related macular degenerationEric Jorgenson, Ronald B Melles, Thomas J Hoffmann, et al.
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