Showing results (41-50 of 58) with videos related to

Sort By:
Pageof 6
Human Molecular Genetics|June 14, 2020
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organsNicola Bedoni, Mathieu Quinodoz, Michele Pinelli, et al.
American Journal of Medical Genetics. Part A|July 25, 2022
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorderGerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, et al.
Nature Genetics|June 21, 2016
Parent-of-origin-specific signatures of de novo mutationsJakob M Goldmann, Wendy S W Wong, Michele Pinelli, et al.
Nature Genetics|October 7, 2018
Author Correction: Parent-of-origin-specific signatures of de novo mutationsJakob M Goldmann, Wendy S W Wong, Michele Pinelli, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 30, 2022
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndromeGerarda Cappuccio, Simona Brillante, Roberta Tammaro, et al.
Frontiers in Molecular Biosciences|May 26, 2023
Resources and tools for rare disease variant interpretationLuana Licata, Allegra Via, Paola Turina, et al.
Clinical Genetics|July 23, 2021
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteinsSmrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, et al.
Orphanet Journal of Rare Diseases|September 28, 2018
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional studyGuja Astrea, Alessandro Romano, Corrado Angelini, et al.
Epilepsia|December 13, 2023
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencingAntonietta Coppola, S Krithika, Michele Iacomino, et al.
Brain : a Journal of Neurology|July 19, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypesMarcello Scala, Masashi Nishikawa, Hidenori Ito, et al.
Pageof 6