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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 29, 2019
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsyMaria J Nabais Sá, Hanka Venselaar, Laurens Wiel, et al.Nature Genetics|January 11, 2011
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritisIngrid M B H van de Laar, Rogier A Oldenburg, Gerard Pals, et al.Circulation Research|May 3, 2012
NPHP4 variants are associated with pleiotropic heart malformationsVanessa M French, Ingrid M B H van de Laar, Marja W Wessels, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendationsEric Lee, Trang Le, Ying Zhu, et al.Human Mutation|June 20, 2019
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humansTimothy C Cox, Andrew C Lidral, Jason C McCoy, et al.Journal of Medical Genetics|December 25, 2021
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 geneAida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, et al.Nature Genetics|May 22, 2012
Dominant missense mutations in ABCC9 cause Cantú syndromeMagdalena Harakalova, Jeske J T van Harssel, Paulien A Terhal, et al.American Journal of Human Genetics|November 3, 2015
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2Celia Zazo Seco, Luciana Serrão de Castro, Josephine W van Nierop, et al.American Journal of Human Genetics|March 19, 2024
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndromeCaspar I van der Made, Simone Kersten, Odelia Chorin, et al.Pageof 13