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Changrui Xiao

Showing results (1-10 of 27) with videos related to

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American Journal of Medical Genetics. Part A|May 5, 2026
Defining Features of Gabriele-de Vries Syndrome in Adults: A Case Report and Literature ReviewEthan W Hollingsworth, Changrui Xiao
Molecular Genetics & Genomic Medicine|December 23, 2025
A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare DiseasesRajeev Dutta, Cathy Duong, Virginia Kimonis, et al.
Journal of Inherited Metabolic Disease|February 17, 2021
Inherited disorders of complex lipid metabolism: A clinical reviewChangrui Xiao, Francis Rossignol, Frédéric M Vaz, et al.
Journal of the American Medical Informatics Association : JAMIA|April 16, 2026
Applying natural language processing and large language models to clinical notes for phenotyping and diagnosing rare diseases: a systematic reviewSeungjun Kim, Yiliang Zhou, Yawen Guo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2026
Response to Spurdle et alSeth I Berger, Georgia Pitsava, Changrui Xiao, et al.
Neurology. Genetics|August 7, 2023
Genomic Diagnoses for Ectopic Intracerebral CalcificationsChangrui Xiao, Thomas Cassini, Daniel Benavides, et al.
JAAD Case Reports|January 22, 2025
Cutaneous manifestations in D-2-hydroxyglutaric aciduria type 2 and response to enasidenib therapyJennifer Roux, Gabrielle Brody, Brandie Metz, et al.
Neurology. Genetics|July 19, 2021
PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1Changrui Xiao, Thomas Markello, Wadih M Zein, et al.
Veterinary Microbiology|January 15, 2026
Salmonella virulence factor sptP activates the NLRP3/Caspase-1 pathway to induce pyroptosis and exacerbate intestinal injury in chicksBo Zhang, Ke Li, Hongya Yan, et al.
Molecular Genetics & Genomic Medicine|July 18, 2022
Adults with lysosomal storage diseases in the undiagnosed diseases networkChangrui Xiao, Mary Koziura, Heidi Cope, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|May 5, 2026
Defining Features of Gabriele-de Vries Syndrome in Adults: A Case Report and Literature ReviewEthan W Hollingsworth, Changrui Xiao
Molecular Genetics & Genomic Medicine|December 23, 2025
A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare DiseasesRajeev Dutta, Cathy Duong, Virginia Kimonis, et al.
Journal of Inherited Metabolic Disease|February 17, 2021
Inherited disorders of complex lipid metabolism: A clinical reviewChangrui Xiao, Francis Rossignol, Frédéric M Vaz, et al.
Journal of the American Medical Informatics Association : JAMIA|April 16, 2026
Applying natural language processing and large language models to clinical notes for phenotyping and diagnosing rare diseases: a systematic reviewSeungjun Kim, Yiliang Zhou, Yawen Guo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2026
Response to Spurdle et alSeth I Berger, Georgia Pitsava, Changrui Xiao, et al.
Neurology. Genetics|August 7, 2023
Genomic Diagnoses for Ectopic Intracerebral CalcificationsChangrui Xiao, Thomas Cassini, Daniel Benavides, et al.
JAAD Case Reports|January 22, 2025
Cutaneous manifestations in D-2-hydroxyglutaric aciduria type 2 and response to enasidenib therapyJennifer Roux, Gabrielle Brody, Brandie Metz, et al.
Neurology. Genetics|July 19, 2021
PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1Changrui Xiao, Thomas Markello, Wadih M Zein, et al.
Veterinary Microbiology|January 15, 2026
Salmonella virulence factor sptP activates the NLRP3/Caspase-1 pathway to induce pyroptosis and exacerbate intestinal injury in chicksBo Zhang, Ke Li, Hongya Yan, et al.
Molecular Genetics & Genomic Medicine|July 18, 2022
Adults with lysosomal storage diseases in the undiagnosed diseases networkChangrui Xiao, Mary Koziura, Heidi Cope, et al.
Pageof 3