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American Journal of Medical Genetics. Part A|March 28, 2020
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome)Ryan H Peretz, Christina H Flora, Darius J AdamsAmerican Journal of Medical Genetics. Part A|March 27, 2020
Chimerism in health and potential implications on behavior: A systematic reviewBrandon N Johnson, Erik A Ehli, Gareth E Davies, et al.American Journal of Medical Genetics. Part A|March 22, 2020
MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasiaMaría Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, María de Los Ángeles Gómez-Cano, et al.American Journal of Medical Genetics. Part A|March 22, 2020
A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndromeBrooke R Willis, Mianne Lee, Kavitha Rethanavelu, et al.American Journal of Medical Genetics. Part A|March 15, 2020
An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosisCaterina De Luca, Elisa Bevilacqua, Dominique A Badr, et al.American Journal of Medical Genetics. Part A|January 25, 2020
Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?Michael T Gabbett, Cassandra J Jeavons, Peter H GrayAmerican Journal of Medical Genetics. Part A|October 27, 2020
Clinical aspects of a large group of adults with Angelman syndromeInge den Besten, Rianne F de Jong, Amber Geerts-Haages, et al.American Journal of Medical Genetics. Part A|October 16, 2020
Waiting for a diagnosis in Rubinstein-Taybi: The journey from "ignorance is bliss" to the value of "a label"Chelsea M Withers, Jane Fleming, Courtney K Wallingford, et al.American Journal of Medical Genetics. Part A|October 13, 2020
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndromeChaofan Zhang, Juliana F Mazzeu, Jesper Eisfeldt, et al.American Journal of Medical Genetics. Part A|October 14, 2020
Earlier detection of hypochondroplasia: A large single-center UK case series and systematic reviewAtaf H Sabir, Jameela Sheikh, Ananya Singh, et al.Pageof 928