Showing results (1-10 of 138) with videos related to
Sort By:
Pageof 14
Indian Pediatrics|June 27, 2009
Carbonic anhydrase II deficiency a novel mutationSheela Nampoothiri, Yair AniksterPediatric Endocrinology Reviews : PER|December 20, 2005
Optic neuropathies in inherited metabolic disordersMarjan Huizing, Brian P Brooks, Yair AniksterMolecular Genetics and Metabolism|October 1, 2005
Optic atrophies in metabolic disordersMarjan Huizing, Brian P Brooks, Yair AniksterPediatric Dermatology|September 5, 2015
Griscelli Syndrome Type 3: Two New Cases and Review of the LiteratureAriella Nouriel, Jonah Zisquit, Alexander M Helfand, et al.Molecular Genetics and Metabolism|July 20, 2002
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findingsRobert Kleta, Flemming Skovby, Ernst Christensen, et al.Fetal and Pediatric Pathology|October 17, 2015
Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 GeneArik Eisenkraft, Ben Pode-Shakked, Nurit Goldstein, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|April 14, 2009
Different patterns of human serum procollagen C-proteinase enhancer1 (PCPE1)Shlomit Mesilaty-Gross, Yair Anikster, Bela Vilensky, et al.Plos One|March 14, 2014
A human integrin-α3 mutation confers major renal developmental defectsRachel Shukrun, Asaf Vivante, Oren Pleniceanu, et al.Annals of Human Genetics|December 23, 2011
Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI)Alessandro Gialluisi, Tommaso Pippucci, Yair Anikster, et al.Pediatric Dermatology|November 15, 2013
Neonatal hyperpigmentation: diagnosis of familial glucocorticoid deficiency with a novel mutation in the melanocortin-2 receptor geneElad Jacoby, Aviv Barzilai, Joseph Laufer, et al.Pageof 14