Search research articles
Contact Us
Filters
Showing results (11-20 of 20) with videos related to
Page
of 2
Sort By:
You have reached the last page of results.
This site can display upto 20 results.
Nature Communications
|
November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
William L Macken, Micol Falabella, Caroline McKittrick, et al.
European Journal of Human Genetics : EJHG
|
April 25, 2024
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India
Venugopalan Y Vishnu, Richard J L F Lemmers, Alisha Reyaz, et al.
Annals of Neurology
|
March 11, 2021
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases
Olivia V Poole, Chiara Pizzamiglio, David Murphy, et al.
Brain : a Journal of Neurology
|
May 16, 2024
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
Tamar Harel, Camille Spicher, Elisabeth Scheer, et al.
Investigative Ophthalmology & Visual Science
|
June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder
Neringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.
Brain : a Journal of Neurology
|
September 16, 2024
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
Micol Falabella, Chiara Pizzamiglio, Luis Carlos Tabara, et al.
Nature Communications
|
May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy
Micol Falabella, Sandra Lopez Calcerrada, Jana Aref, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy
Anneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
The Lancet. Neurology
|
July 19, 2025
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series
J Robert Harkness, John H McDermott, Shea Marsden, et al.
Brain : a Journal of Neurology
|
July 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversity
Lindsay A Wilson, William L Macken, Luke D Perry, et al.
Page
of 2
Search research articles
Search
Showing results (11-20 of 20) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 20 results.
Nature Communications
|
November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
William L Macken, Micol Falabella, Caroline McKittrick, et al.
European Journal of Human Genetics : EJHG
|
April 25, 2024
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India
Venugopalan Y Vishnu, Richard J L F Lemmers, Alisha Reyaz, et al.
Annals of Neurology
|
March 11, 2021
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases
Olivia V Poole, Chiara Pizzamiglio, David Murphy, et al.
Brain : a Journal of Neurology
|
May 16, 2024
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
Tamar Harel, Camille Spicher, Elisabeth Scheer, et al.
Investigative Ophthalmology & Visual Science
|
June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder
Neringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.
Brain : a Journal of Neurology
|
September 16, 2024
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
Micol Falabella, Chiara Pizzamiglio, Luis Carlos Tabara, et al.
Nature Communications
|
May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy
Micol Falabella, Sandra Lopez Calcerrada, Jana Aref, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy
Anneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
The Lancet. Neurology
|
July 19, 2025
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series
J Robert Harkness, John H McDermott, Shea Marsden, et al.
Brain : a Journal of Neurology
|
July 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversity
Lindsay A Wilson, William L Macken, Luke D Perry, et al.
Page
of 2