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Epilepsia|November 1, 2022
De novo KCNA6 variants with attenuated K<sub>V</sub> 1.6 channel deactivation in patients with epilepsyVincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, et al.
NPJ Genomic Medicine|May 9, 2025
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencingAlexandra C Keefe, Dana M Jensen, Meranda M Pham, et al.
EMBO Molecular Medicine|August 2, 2022
FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorderChristopher W Fell, Astrid Hagelkruys, Ana Cicvaric, et al.
Pediatric Neurology|November 5, 2021
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability SyndromeJacqueline L Steele, Michelle M Morrow, Harvey B Sarnat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variantsYuri A Zarate, Tomoko Uehara, Kota Abe, et al.
Molecular Psychiatry|October 30, 2024
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delaySenwei Tan, Qiumeng Zhang, Rui Zhan, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement DisordersJuan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
American Journal of Human Genetics|March 26, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
American Journal of Human Genetics|July 30, 2020
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical SpectrumMarialetizia Motta, Luca Pannone, Francesca Pantaleoni, et al.
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