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Claudia Ciaccio

Showing results (31-40 of 36) with videos related to

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American Journal of Medical Genetics. Part A|February 11, 2022
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotoniaMatthew A Lines, Paula Goldenberg, Ashley Wong, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotypeCamilla Sarli, Liselot van der Laan, Jack Reilly, et al.
Genes|September 28, 2023
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature ReviewPatricia Pascual, Jair Tenorio-Castano, Cyril Mignot, et al.
Brain : a Journal of Neurology|October 15, 2024
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorderEleanor G Seaby, Annie Godwin, Géraldine Meyer-Dilhet, et al.
Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2019
PEDIA: prioritization of exome data by image analysisTzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, et al.
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Showing results (31-40 of 36) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 36 results.
American Journal of Medical Genetics. Part A|February 11, 2022
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotoniaMatthew A Lines, Paula Goldenberg, Ashley Wong, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotypeCamilla Sarli, Liselot van der Laan, Jack Reilly, et al.
Genes|September 28, 2023
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature ReviewPatricia Pascual, Jair Tenorio-Castano, Cyril Mignot, et al.
Brain : a Journal of Neurology|October 15, 2024
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorderEleanor G Seaby, Annie Godwin, Géraldine Meyer-Dilhet, et al.
Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2019
PEDIA: prioritization of exome data by image analysisTzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, et al.
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