Showing results (21-30 of 32) with videos related to
Sort By:
Pageof 4
American Journal of Human Genetics|April 7, 2022
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiationMarion Coolen, Nami Altin, Karthyayani Rajamani, et al.Frontiers in Genetics|June 21, 2024
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiencesMichelle Peter, Rhiannon Mellis, Hannah McInnes-Dean, et al.Human Molecular Genetics|March 21, 2020
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndromeReham Alharatani, Athina Ververi, Ana Beleza-Meireles, et al.Journal of Human Genetics|April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analysesAnna Hammarsjö, Maria Pettersson, David Chitayat, et al.American Journal of Human Genetics|October 1, 2019
Autosomal-Recessive Mutations in MESD Cause Osteogenesis ImperfectaShahida Moosa, Guilherme L Yamamoto, Lutz Garbes, et al.Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 14, 2019
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.Nature Genetics|September 11, 2012
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotoniaMagdalena Zimoń, Jonathan Baets, Leonardo Almeida-Souza, et al.Nature Communications|May 6, 2021
Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal diseaseScott E Youlten, John P Kemp, John G Logan, et al.American Journal of Human Genetics|February 24, 2022
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndromeFederico Tessadori, Karen Duran, Karen Knapp, et al.Pageof 4