Showing results (131-140 of 269) with videos related to

Sort By:
Pageof 27
Prenatal Diagnosis|May 29, 2010
Uptake of prenatal diagnostic testing and the effectiveness of prenatal screening for Down syndromeAlice M Jaques, Veronica R Collins, Evelyne E Muggli, et al.
European Journal of Medical Genetics|February 12, 2024
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorderLottie D Morison, Olivia Van Reyk, Emma Baker, et al.
Developmental Medicine and Child Neurology|July 3, 2026
Neuropathic pain in cerebral palsy and related genetic conditions: A scoping review of prevalence, characteristics, and managementAayushi Khillan, Sanya Verma, Hannah Yeomans, et al.
European Journal of Human Genetics : EJHG|February 16, 2018
Deep phenotyping of speech and language skills in individuals with 16p11.2 deletionCristina Mei, Evelina Fedorenko, David J Amor, et al.
Reproductive Biomedicine Online|July 16, 2017
Health outcomes of school-aged children conceived using donor spermDavid J Amor, Sharon Lewis, Joanne Kennedy, et al.
Journal of Paediatrics and Child Health|February 14, 2019
Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unitNatalie B Tan, Tiong Yang Tan, Melissa M Martyn, et al.
Clinical Genetics|January 23, 2023
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetranceMelanie Leffler, Louise Christie, Anna Hackett, et al.
Genes|October 28, 2023
Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome SpectrumLinda M Reis, David J Amor, Raad A Haddad, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 26, 2018
Characterization of speech and language phenotype in children with NRXN1 deletionsAmanda Brignell, Miya St John, Amber Boys, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 29, 2011
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonismDanuta Z Loesch, David E Godler, Andrew Evans, et al.
Pageof 27