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European Journal of Human Genetics : EJHG|October 11, 2024
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndromeFulvio D'Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, et al.Journal of Medical Genetics|June 4, 2021
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric studySara Nuovo, Alessia Micalizzi, Romina Romaniello, et al.American Journal of Human Genetics|December 20, 2024
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locusMarcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.Journal of Nephrology|January 30, 2025
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney diseaseElhussein A E Elhassan, Kane E Collins, Sophia Heneghan, et al.Annals of Neurology|July 29, 2024
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual DisabilityArkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi, et al.Frontiers in Neurology|December 20, 2018
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional StudyAngelica D'Amore, Alessandra Tessa, Carlo Casali, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2022
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsKerith-Rae Dias, Colleen M Carlston, Laura E R Blok, et al.American Journal of Human Genetics|September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological SyndromesTamar Harel, Wan Hee Yoon, Caterina Garone, et al.Journal of Medical Genetics|March 2, 2022
Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndromeMarco Angelozzi, Anirudha Karvande, Arnaud N Molin, et al.Kidney International|August 5, 2020
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypesMartina Živná, Kendrah Kidd, Mohamad Zaidan, et al.Pageof 9