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American Journal of Medical Genetics. Part A|November 22, 2013
Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) geneKohji Miura, Ok-Hwa Kim, Hey Ran Lee, et al.American Journal of Medical Genetics. Part A|November 22, 2013
ACVR1 (587T>C) mutation in a variant form of fibrodysplasia ossificans progressiva: second reportY Nakahara, T Katagiri, N Ogata, et al.American Journal of Medical Genetics. Part A|December 20, 2013
Aortic aneurysm and craniosynostosis in a family with Cantu syndromeYoko Hiraki, Satoko Miyatake, Michiko Hayashidani, et al.American Journal of Medical Genetics. Part A|January 6, 2022
Healthcare utilization among youth with Ehlers-Danlos syndrome hypermobile typeSara E Williams, Susan T Tran, Anne Lynch-Jordan, et al.American Journal of Medical Genetics. Part A|March 15, 2021
A novel microduplication in INPP5A segregates with schizophrenia spectrum disorder in the family of a patient with both childhood onset schizophrenia and autism spectrum disorderArnaud Fernandez, Małgorzata Drozd, Susanne Thümmler, et al.American Journal of Medical Genetics. Part A|March 17, 2021
A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4Sonja Strang-Karlsson, Maria von Willebrand, Kristiina Avela, et al.American Journal of Medical Genetics. Part A|March 17, 2021
Specialty clinics for adults with Down syndrome: A clinic surveyStephanie L Santoro, Ashlee Campbell, Archana Balasubramanian, et al.American Journal of Medical Genetics. Part A|December 8, 2021
Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020Chris Oliver, Laura Groves, Blake D Hansen, et al.American Journal of Medical Genetics. Part A|December 9, 2021
Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patientsDong Li, Helen Downes, Cuiping Hou, et al.American Journal of Medical Genetics. Part A|March 19, 2021
A case of Ververi-Brady syndrome due to QRICH1 loss of function and the literature reviewYoav Baruch, Shirley Horn-Saban, Yoram Plotsky, et al.Pageof 928