Showing results (51-60 of 107) with videos related to

Sort By:
Pageof 11
Journal of Medical Genetics|June 24, 2020
Defining the phenotypical spectrum associated with variants in TUBB2AStefanie Brock, Tim Vanderhasselt, Sietske Vermaning, et al.
European Journal of Human Genetics : EJHG|August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsChristina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.
The Journal of Clinical Endocrinology and Metabolism|October 9, 2012
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistanceAgnès Linglart, Helena Fryssira, Olaf Hiort, et al.
Orphanet Journal of Rare Diseases|July 25, 2013
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutationsClaudia Voigt, André Mégarbané, Kornelia Neveling, et al.
European Journal of Human Genetics : EJHG|August 21, 2014
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndromeAlma Kuechler, Alexander M Zink, Thomas Wieland, et al.
Human Molecular Genetics|March 29, 2022
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndromeMarialetizia Motta, Maja Solman, Adeline A Bonnard, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
Next-generation sequencing in X-linked intellectual disabilityAndreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, et al.
Annals of Neurology|April 10, 2018
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variantNicolas Chatron, Rikke S Møller, Neena L Champaigne, et al.
Human Genetics|April 11, 2017
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disabilityNuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan, et al.
Scientific Reports|July 30, 2021
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in bloodAna Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, et al.
Pageof 11