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Clinical Genetics|August 19, 2015
Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous familyWen-Tao He, Chen Chen, Chu Pan, et al.Clinical Genetics|April 23, 2016
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotypingJ S Amos, L Huang, J Thevenon, et al.Clinical Genetics|April 23, 2016
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemiaA Torraco, M Bianchi, D Verrigni, et al.Clinical Genetics|April 23, 2016
Social anxiety and autism spectrum traits among adult FMR1 premutation carriersO López-Mourelo, E Mur, I Madrigal, et al.Clinical Genetics|April 1, 1989
Non-mosaic trisomy 20 in amniotic fluid cultures with minor anomalies in the fetusT L Myers, L A ProutyClinical Genetics|April 1, 1989
Brachydactyly type A-7 (Smorgasbord): a new entityS A Meiselman, M Berkenstadt, T Ben-Ami, et al.Clinical Genetics|March 9, 2016
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopiaL Lange, A T Pagnamenta, S Lise, et al.Clinical Genetics|March 8, 2016
Prenatal diagnosis of trisomy 21, 18 and 13 by quantitative pyrosequencing of segmental duplicationsH Tong, Y Jin, Y Xu, et al.Clinical Genetics|July 31, 2013
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type IR Pérez-Carro, R Sánchez-Alcudia, B Pérez, et al.Pageof 719