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HGG Advances
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August 30, 2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function
Giovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, et al.
American Journal of Medical Genetics. Part A
|
November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms
Alessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 29, 2026
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly
Francesca Clementina Radio, Giorgio Tasca, Sandra Coppens, et al.
Cell Death & Disease
|
November 21, 2022
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, et al.
The New England Journal of Medicine
|
June 29, 2026
Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia
Ravi Savarirayan, Julie Hoover-Fong, Melita Irving, et al.
Journal of Medical Genetics
|
March 8, 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, et al.
Clinical Genetics
|
May 6, 2021
ANKRD11 variants: KBG syndrome and beyond
Ilaria Parenti, Mark B Mallozzi, Irina Hüning, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
James Fasham, Siying Lin, Promita Ghosh, et al.
Brain : a Journal of Neurology
|
October 15, 2024
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder
Eleanor G Seaby, Annie Godwin, Géraldine Meyer-Dilhet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 2, 2022
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
Richard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, et al.
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of 12
Search research articles
Search
Showing results (101-110 of 111) with videos related to
Sort By:
Page
of 12
HGG Advances
|
August 30, 2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function
Giovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, et al.
American Journal of Medical Genetics. Part A
|
November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms
Alessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 29, 2026
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly
Francesca Clementina Radio, Giorgio Tasca, Sandra Coppens, et al.
Cell Death & Disease
|
November 21, 2022
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, et al.
The New England Journal of Medicine
|
June 29, 2026
Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia
Ravi Savarirayan, Julie Hoover-Fong, Melita Irving, et al.
Journal of Medical Genetics
|
March 8, 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, et al.
Clinical Genetics
|
May 6, 2021
ANKRD11 variants: KBG syndrome and beyond
Ilaria Parenti, Mark B Mallozzi, Irina Hüning, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
James Fasham, Siying Lin, Promita Ghosh, et al.
Brain : a Journal of Neurology
|
October 15, 2024
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder
Eleanor G Seaby, Annie Godwin, Géraldine Meyer-Dilhet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 2, 2022
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
Richard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, et al.
Page
of 12