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American Journal of Medical Genetics. Part A
|
January 19, 2022
The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder
Ashish Marwaha, Gregory Costain, Cheryl Cytrynbaum, et al.
Immunologic Research
|
January 6, 2021
Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency
Paria Kashani, Ashish Marwaha, Stephen Feanny, et al.
Genetics and Molecular Biology
|
April 1, 2024
Association between cystic fibrosis transmembrane regulator genotype and clinical outcomes, glucose homeostasis indices and CF-related diabetes risk in adults with CF
Noémie Bélanger, Anne Bonhoure, Tamizan Kherani, et al.
BMJ Open
|
October 19, 2021
Phase II multicentre, double-blind, randomised trial of ustekinumab in adolescents with new-onset type 1 diabetes (USTEK1D): trial protocol
John W Gregory, Kymberley Carter, Wai Yee Cheung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 9, 2022
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome
Rachel Youjin Oh, Ashish R Deshwar, Ashish Marwaha, et al.
Nature Medicine
|
July 30, 2024
Ustekinumab for type 1 diabetes in adolescents: a multicenter, double-blind, randomized phase 2 trial
Danijela Tatovic, Ashish Marwaha, Peter Taylor, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 11, 2024
The spectrum of heart defects in the <i>TRAF7</i>-related multiple congenital anomalies-intellectual disability syndrome
Elise Pisan, Chiara De Luca, Francesco Brancati, et al.
The Journal of Experimental Medicine
|
November 11, 2024
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis
Sina Ghasempour, Neil Warner, Rei Guan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
Taila Hartley, Deborah Marshall, Meryl Acker, et al.
The Journal of Clinical Investigation
|
November 3, 2025
Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Charlotte Gehin, Museer A Lone, Winston Lee, et al.
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Showing results (11-20 of 21) with videos related to
Sort By:
Page
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American Journal of Medical Genetics. Part A
|
January 19, 2022
The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder
Ashish Marwaha, Gregory Costain, Cheryl Cytrynbaum, et al.
Immunologic Research
|
January 6, 2021
Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency
Paria Kashani, Ashish Marwaha, Stephen Feanny, et al.
Genetics and Molecular Biology
|
April 1, 2024
Association between cystic fibrosis transmembrane regulator genotype and clinical outcomes, glucose homeostasis indices and CF-related diabetes risk in adults with CF
Noémie Bélanger, Anne Bonhoure, Tamizan Kherani, et al.
BMJ Open
|
October 19, 2021
Phase II multicentre, double-blind, randomised trial of ustekinumab in adolescents with new-onset type 1 diabetes (USTEK1D): trial protocol
John W Gregory, Kymberley Carter, Wai Yee Cheung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 9, 2022
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome
Rachel Youjin Oh, Ashish R Deshwar, Ashish Marwaha, et al.
Nature Medicine
|
July 30, 2024
Ustekinumab for type 1 diabetes in adolescents: a multicenter, double-blind, randomized phase 2 trial
Danijela Tatovic, Ashish Marwaha, Peter Taylor, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 11, 2024
The spectrum of heart defects in the <i>TRAF7</i>-related multiple congenital anomalies-intellectual disability syndrome
Elise Pisan, Chiara De Luca, Francesco Brancati, et al.
The Journal of Experimental Medicine
|
November 11, 2024
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis
Sina Ghasempour, Neil Warner, Rei Guan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
Taila Hartley, Deborah Marshall, Meryl Acker, et al.
The Journal of Clinical Investigation
|
November 3, 2025
Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Charlotte Gehin, Museer A Lone, Winston Lee, et al.
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of 3