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Clinical Genetics|November 21, 2014
Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutationR Ozgur Rosti, Z Oya Uyguner, Irina Nazarenko, et al.Clinical Genetics|October 19, 2017
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemiaO A Arbiv, G Cuvelier, R J Klaassen, et al.Clinical Genetics|October 19, 2017
Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencingM M França, M F A Funari, M Y Nishi, et al.Clinical Genetics|April 1, 1987
Diagnosis of arylsulfatase A deficiency in intact cultured cells using a fluorescent derivative of cerebroside sulfateG Bach, A Dagan, B Herz, et al.Clinical Genetics|March 13, 2016
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosisS Boppudi, N Bögershausen, H B Hove, et al.Clinical Genetics|July 9, 2016
Choices of incidental findings of individuals undergoing genome wide sequencing, a single center's experienceC L Bishop, K A Strong, D P DimmockClinical Genetics|August 4, 2017
A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPKN Miyake, M Inaba, S Mizuno, et al.Clinical Genetics|November 25, 2015
SATB2-associated syndrome presenting with Rett-like phenotypesJ S Lee, Y Yoo, B C Lim, et al.Clinical Genetics|December 15, 2015
Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenitaN Ekhilevitch, A Kurolap, D Oz-Levi, et al.Pageof 718