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Medrxiv : the Preprint Server for Health Sciences
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January 13, 2025
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu, et al.
Scientific Reports
|
July 2, 2016
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay
Mohammed Uddin, Giovanna Pellecchia, Bhooma Thiruvahindrapuram, et al.
Journal of Neuromuscular Diseases
|
June 10, 2025
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
Justyne E Ross, May Flowers, Shannon McNulty, et al.
Journal of Neuromuscular Diseases
|
November 18, 2025
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review
Beatrice Labella, Guy Brochier, Maud Beuvin, et al.
Brain : a Journal of Neurology
|
October 31, 2022
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15
Afshin Saffari, Melanie Kellner, Catherine Jordan, et al.
Orphanet Journal of Rare Diseases
|
July 18, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
Hugh J McMillan, Aida Telegrafi, Amanda Singleton, et al.
EMBO Molecular Medicine
|
April 14, 2021
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation
Reini E N van der Welle, Rebekah Jobling, Christian Burns, et al.
American Journal of Human Genetics
|
November 24, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects
Anna R Duncan, Antonio Vitobello, Stephan C Collins, et al.
Nature Communications
|
February 17, 2019
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
María Cristina Estañ, Elisa Fernández-Núñez, Maha S Zaki, et al.
Genome Medicine
|
May 12, 2026
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders
Beatrice Valtorta, Zuzana Polackova, Reza Maroofian, et al.
Page
of 18
Search research articles
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Showing results (151-160 of 177) with videos related to
Sort By:
Page
of 18
Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu, et al.
Scientific Reports
|
July 2, 2016
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay
Mohammed Uddin, Giovanna Pellecchia, Bhooma Thiruvahindrapuram, et al.
Journal of Neuromuscular Diseases
|
June 10, 2025
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
Justyne E Ross, May Flowers, Shannon McNulty, et al.
Journal of Neuromuscular Diseases
|
November 18, 2025
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review
Beatrice Labella, Guy Brochier, Maud Beuvin, et al.
Brain : a Journal of Neurology
|
October 31, 2022
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15
Afshin Saffari, Melanie Kellner, Catherine Jordan, et al.
Orphanet Journal of Rare Diseases
|
July 18, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
Hugh J McMillan, Aida Telegrafi, Amanda Singleton, et al.
EMBO Molecular Medicine
|
April 14, 2021
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation
Reini E N van der Welle, Rebekah Jobling, Christian Burns, et al.
American Journal of Human Genetics
|
November 24, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects
Anna R Duncan, Antonio Vitobello, Stephan C Collins, et al.
Nature Communications
|
February 17, 2019
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
María Cristina Estañ, Elisa Fernández-Núñez, Maha S Zaki, et al.
Genome Medicine
|
May 12, 2026
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders
Beatrice Valtorta, Zuzana Polackova, Reza Maroofian, et al.
Page
of 18