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European Journal of Human Genetics : EJHG|June 12, 2022
Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmiasChaya N Murali, Seema R Lalani, Mahshid S Azamian, et al.
European Journal of Human Genetics : EJHG|February 18, 2011
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disordersJana Herholz, Alessandra Meloni, Mara Marongiu, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
Relationship between the polymorphism of tumor necrosis factor-α-308 G>A and susceptibility to inflammatory bowel diseases and colorectal cancer: a meta-analysisWang Fan, Wang Maoqing, Chen Wangyang, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
Genome-wide association study confirms extant PD risk loci among the DutchJavier Simón-Sánchez, Jacobus J van Hilten, Bart van de Warrenburg, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and QuebecMichel Dorval, Catherine Noguès, Pascaline Berthet, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
CraniosynostosisDavid Johnson, Andrew O M Wilkie
European Journal of Human Genetics : EJHG|January 21, 2011
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian populationRossella Sorice, Silvia Bione, Serena Sansanelli, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutationsClaire Julian-Reynier, Julien Mancini, Emmanuelle Mouret-Fourme, et al.
European Journal of Human Genetics : EJHG|December 15, 2010
Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in AustraliaManuel A R Ferreira, Allan F McRae, Sarah E Medland, et al.
European Journal of Human Genetics : EJHG|December 15, 2010
NDUFA10 mutations cause complex I deficiency in a patient with Leigh diseaseSaskia J G Hoefs, Francjan J van Spronsen, Ellen W H Lenssen, et al.
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