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Clinical Genetics|November 1, 2011
A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effectA Mili, I Ben Charfeddine, A Amara, et al.Clinical Genetics|August 2, 2011
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthoodM Klaassens, E Reinstein, Y Hilhorst-Hofstee, et al.Clinical Genetics|October 11, 2011
What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegenerationM E Ketelaar, E M W Hofstra, M R HaydenClinical Genetics|October 11, 2011
Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosaI Hernan, M J Gamundi, E Borràs, et al.Clinical Genetics|June 1, 1979
A major locus for hyper-beta-lipoproteinemia with xanthomatosisL IseliusClinical Genetics|January 7, 2012
Schizophrenia as variation in the sapiens-specific epigenetic instruction to the embryoT J CrowClinical Genetics|September 3, 2011
Development and validation of an instrument to measure the impact of genetic testing on self-concept in Lynch syndromeM J Esplen, N Stuckless, S Gallinger, et al.Clinical Genetics|March 1, 2012
Direct to consumer genetic testing: a systematic review of position statements, policies and recommendationsH Skirton, L Goldsmith, L Jackson, et al.Clinical Genetics|December 14, 2011
Aicardi-Goutieres syndrome: from patients to genes and beyondC Chahwan, R ChahwanClinical Genetics|July 4, 2017
NDUFA9 point mutations cause a variable mitochondrial complex I assembly defectF Baertling, L Sánchez-Caballero, M A M van den Brand, et al.Pageof 718