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European Journal of Human Genetics : EJHG|April 18, 2018
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastomaValentina Imperatore, Anna Maria Pinto, Elisa Gelli, et al.
European Journal of Human Genetics : EJHG|April 28, 2018
Using a genetic test result in the care of family members: how does the duty of confidentiality apply?Michael Parker, Anneke Lucassen
European Journal of Human Genetics : EJHG|May 1, 2018
Distress, uncertainty, and positive experiences associated with receiving information on personal genomic risk of melanomaAmelia K Smit, Ainsley J Newson, Megan Best, et al.
European Journal of Human Genetics : EJHG|May 1, 2018
Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli populationMor Hanany, Gilad Allon, Adva Kimchi, et al.
European Journal of Human Genetics : EJHG|May 1, 2018
RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicingAnne Ml Jansen, Heleen M van der Klift, Marieke Ae Roos, et al.
European Journal of Human Genetics : EJHG|March 12, 2009
Charcot-Marie-Tooth diseaseKinga Szigeti, James R Lupski
European Journal of Human Genetics : EJHG|March 12, 2009
Genetic testing in asymptomatic minors: background considerations towards ESHG RecommendationsPascal Borry, Gerry Evers-Kiebooms, Martina C Cornel, et al.
European Journal of Human Genetics : EJHG|March 12, 2009
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlapMay-Britt Harmsen, Silvia Azzarello-Burri, M Mar García González, et al.
European Journal of Human Genetics : EJHG|March 12, 2009
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosisFrancesca Mari, Pia Hermanns, Maria L Giovannucci-Uzielli, et al.
European Journal of Human Genetics : EJHG|March 19, 2009
Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factorMaria Ban, An Goris, Aslaug R Lorentzen, et al.
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