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Annals of Clinical and Translational Neurology|April 16, 2025
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium StudyStephanie M Hunn, Lindsay N Alfano, Aileen Jones, et al.
Implementation Science Communications|January 5, 2024
A study protocol for implementing Canadian Practice Guidelines for Treating Children and Adolescents with Eating DisordersJennifer L Couturier, Melissa Kimber, Catherine Ford, et al.
Neuromuscular Disorders : NMD|April 10, 2026
Natural history of limb girdle muscular dystrophy R1 (LGMDR1): a GRASP consortium studyStephanie M Hunn, Andrew R Findlay, Lindsay N Alfano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2022
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panelsErin Rooney Riggs, Taylor I Bingaman, Carrie-Ann Barry, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease RelationshipsEleanor Broeren, Vanessa Gitau, Alicia Byrne, et al.
Genetics in Medicine Open|June 11, 2025
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationshipsEleanor C Broeren, Vanessa N Gitau, Alicia B Byrne, et al.
Genetics|October 6, 2025
Mondo: Integrating Disease Terminology Across CommunitiesNicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, et al.
Scientific Data|May 22, 2021
Global data on earthworm abundance, biomass, diversity and corresponding environmental propertiesHelen R P Phillips, Elizabeth M Bach, Marie L C Bartz, et al.
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