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Neurology. Genetics|August 12, 2024
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental DisorderMichael S Hildebrand, Ruth O Braden, Mariana L Lauretta, et al.Plos One|January 24, 2014
Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36Hitisha P Zaveri, Tyler F Beck, Andrés Hernández-García, et al.European Journal of Human Genetics : EJHG|January 13, 2026
Childhood motor speech disorders: who to prioritise for genetic testingHalianna Van Niel, Mariana Lauretta, Emma Baker, et al.Journal of Medical Genetics|January 30, 2024
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individualsLottie D Morison, Milou G P Kennis, Dmitrijs Rots, et al.Research Square|April 10, 2023
A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndromeAfif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.Scientific Reports|August 10, 2023
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndromeAfif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.American Journal of Medical Genetics. Part A|July 17, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature ReviewSietse M Aukema, Kim Vandenput, Emanuela Scarano, et al.Nature Communications|June 3, 2026
Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopmentLisa Hamerlinck, Eva D'haene, Michael B Vaughan, et al.Journal of Medical Genetics|November 3, 2022
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.Journal of Medical Genetics|November 11, 2022
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrumTristan Celse, Angèle Tingaud-Sequeira, Klaus Dieterich, et al.Pageof 11