Showing results (61-70 of 101) with videos related to
Sort By:
Pageof 11
Neurology. Genetics|July 20, 2019
HACE1 deficiency leads to structural and functional neurodevelopmental defectsVanja Nagy, Ronja Hollstein, Tsung-Pin Pai, et al.Human Genetics|March 1, 2015
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromesNuria C Bramswig, Hermann-Josef Lüdecke, Yasemin Alanay, et al.Frontiers in Genetics|November 18, 2024
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotypeCristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, et al.Epilepsia|February 7, 2017
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new casesJoseph D Symonds, Shelagh Joss, Kay A Metcalfe, et al.Human Genetics|January 26, 2017
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypesIlaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, 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.Annals of Neurology|April 12, 2019
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonismAna Westenberger, Charles Jourdan Reyes, Gerard Saranza, et al.International Journal of Molecular Sciences|February 26, 2022
Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA RetrotransposonJelena Pozojevic, Shela Marie Algodon, Joseph Neos Cruz, et al.Nature Communications|September 3, 2024
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansionsLars Mohren, Friedrich Erdlenbruch, Elsa Leitão, et al.Orphanet Journal of Rare Diseases|February 12, 2024
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseasesHolm Graessner, Carola Reinhard, Tobias Bäumer, et al.Pageof 11