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American Journal of Medical Genetics. Part A|August 29, 2018
Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatmentEriko Nishi, Mizue Takasugi, Rie Kawamura, et al.American Journal of Medical Genetics. Part A|August 29, 2018
Silver Russel syndrome in an aboriginal patient from AustraliaCathryn Poulton, Dimitar Azmanov, Vanessa Atkinson, et al.American Journal of Medical Genetics. Part A|April 25, 2019
Neurofibromatosis type 1 of the child increases birth weightJussi Leppävirta, Roope A Kallionpää, Elina Uusitalo, et al.American Journal of Medical Genetics. Part A|September 24, 2018
Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalisIlina Datkhaeva, Valerie A Arboleda, T Niroshi Senaratne, et al.American Journal of Medical Genetics. Part A|September 24, 2018
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disordersAlison Eaton, Francois P Bernier, Caitlin Goedhart, et al.American Journal of Medical Genetics. Part A|September 24, 2018
Phenotypic and molecular insights into PQBP1-related intellectual disabilityGhada M H Abdel-Salam, Noriko Miyake, Mohamed S Abdel-Hamid, et al.American Journal of Medical Genetics. Part A|September 15, 2018
A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13CJariya Upadia, Patrick R Gonzales, T Prescott Atkinson, et al.American Journal of Medical Genetics. Part A|August 3, 2018
Studying Down syndrome recognition probabilities in Thai children with de-identified computer-aided facial analysisNattariya Vorravanpreecha, Thanayoot Lertboonnum, Rungrote Rodjanadit, et al.American Journal of Medical Genetics. Part A|August 3, 2018
Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pairMaria Dora Jazmin Lacarrubba-Flores, Daniel Rocha Carvalho, Erlane Marques Ribeiro, et al.American Journal of Medical Genetics. Part A|August 9, 2018
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR CongoAimé Lumaka, Valerie Race, Hilde Peeters, et al.Pageof 928