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Genes|June 2, 2021
Schuurs-Hoeijmakers Syndrome (<i>PACS1</i> Neurodevelopmental Disorder): Seven Novel Patients and a ReviewJair Tenorio-Castaño, Beatriz Morte, Julián Nevado, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 31, 2023
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouseAnne-Sophie Denommé-Pichon, Stephan C Collins, Ange-Line Bruel, et al.
HGG Advances|March 30, 2024
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profilesSadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, et al.
Human Mutation|September 9, 2014
A new overgrowth syndrome is due to mutations in RNF125Jair Tenorio, Alicia Mansilla, María Valencia, et al.
European Journal of Endocrinology|September 13, 2021
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomaliesLucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, et al.
International Journal of Molecular Sciences|November 26, 2022
Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser SyndromeLiselot van der Laan, Kathleen Rooney, Mariëlle Alders, et al.
Frontiers in Genetics|May 2, 2022
Variability in Phelan-McDermid Syndrome in a Cohort of 210 IndividualsJulián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, et al.
American Journal of Medical Genetics. Part A|May 11, 2022
Heterozygous variants in PRPF8 are associated with neurodevelopmental disordersLauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, et al.
Human Molecular Genetics|September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localizationAnne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.
European Journal of Human Genetics : EJHG|January 20, 2018
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndromeAnneke Kievit, Federico Tessadori, Hannie Douben, et al.
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