Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
Scientific Reports|July 15, 2024
LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndromeJelena Pozojevic, Radhika Sivaprasad, Joshua Laß, et al.
Genes|January 21, 2022
Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore SequencingTheresa Lüth, Joshua Laβ, Susen Schaake, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 11, 2020
DNA Methylation as a Potential Molecular Mechanism in X-linked Dystonia-ParkinsonismChristin Krause, Susen Schaake, Karen Grütz, et al.
Human Genetics|December 21, 2024
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalitiesNaseebullah Kakar, Selinda Mascarenhas, Asmat Ali, et al.
Biomed Research International|March 1, 2016
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange SyndromeMaría E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, et al.
Brain : a Journal of Neurology|April 28, 2022
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onsetJoanne Trinh, Theresa Lüth, Susen Schaake, 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.
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.
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.
Pageof 3