Showing results (21-30 of 86) with videos related to
Sort By:
Pageof 9
Developmental Medicine and Child Neurology|November 11, 2024
Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disordersThomas W Frazier, Robyn M Busch, Patricia Klaas, et al.European Journal of Human Genetics : EJHG|May 7, 2015
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palateJeroen Breckpot, Britt-Marie Anderlid, Yasemin Alanay, et al.Endocrine|December 22, 2022
The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidismSofia Siffo, Mauricio Gomes Pio, Elena Bueno Martínez, et al.American Journal of Medical Genetics. Part A|February 5, 2008
Clinical and radiographic delineation of odontochondrodysplasiaSheila Unger, Franco Antoniazzi, Milena Brugnara, et al.Clinical Dysmorphology|July 29, 2016
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrumMark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, et al.American Journal of Medical Genetics. Part A|January 12, 2020
Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathyFarah Kanani, Hannah Titheradge, Nicola Cooper, et al.American Journal of Medical Genetics. Part A|January 15, 2019
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literatureRuth Cleaver, Jonathan Berg, Emily Craft, et al.Archives of Disease in Childhood|July 27, 2010
Autism, language and communication in children with sex chromosome trisomiesDorothy V M Bishop, Patricia A Jacobs, Katherine Lachlan, et al.Human Mutation|September 2, 2006
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndromeKyu-Seon Oh, Sikandar G Khan, N G J Jaspers, et al.Journal of Medical Genetics|November 7, 2015
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndromeAnnmarie Hempel, Alistair T Pagnamenta, Moira Blyth, et al.Pageof 9