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American Journal of Medical Genetics. Part A|September 4, 2015
7q11.23 Duplication syndrome: Physical characteristics and natural historyColleen A Morris, Carolyn B Mervis, Alex P Paciorkowski, et al.American Journal of Medical Genetics. Part A|September 24, 2015
Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancyKlane K White, Viviana Bompadre, Michael J Goldberg, et al.American Journal of Medical Genetics. Part A|August 5, 2015
A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephalyJaime Imitola, Divya S Khurana, Nadiya M Teplyuk, et al.American Journal of Medical Genetics. Part A|August 5, 2015
Progressive hip joint subluxation in Saul-Wilson syndromeYasutsugu Chinen, Takuya Kaneshi, Takeshi Kamiya, et al.American Journal of Medical Genetics. Part A|October 15, 2015
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizuresAlmundher Al-Maawali, Brenda J Barry, Anna Rajab, et al.American Journal of Medical Genetics. Part A|October 15, 2015
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification typeMaria Mansouri, Hülya Kayserili, Siham Chafai Elalaoui, et al.American Journal of Medical Genetics. Part A|October 17, 2015
Parental counseling in trisomy 18: Novel insights in prenatal features and postnatal survivalFrancesca M Russo, Elisa Pozzi, Maria Verderio, et al.American Journal of Medical Genetics. Part A|July 26, 2017
Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomaliesJoseph Porrmann, Elitza Betcheva-Krajcir, Nataliya Di Donato, et al.American Journal of Medical Genetics. Part A|July 26, 2017
Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletionAyeshah Chaudhry, Brian H Chung, Dimitri J Stavropoulos, et al.American Journal of Medical Genetics. Part A|July 26, 2017
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variantColleen M Carlston, Zeinab A Afify, Janice C Palumbos, et al.Pageof 929