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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 23, 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
Kelly Schoch, Cecilia Esteves, Anna Bican, et al.
The New England Journal of Medicine
|
September 8, 2010
Nanofiltered C1 inhibitor concentrate for treatment of hereditary angioedema
Bruce L Zuraw, Paula J Busse, Martha White, et al.
Journal of Genetic Counseling
|
September 4, 2019
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing
Chloe M Reuter, Jennefer N Kohler, Devon Bonner, et al.
American Journal of Medical Genetics. Part A
|
April 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling
Annie D Niehaus, Devon E Bonner, Jennefer Carter, et al.
Nature Medicine
|
September 29, 2020
Neuronal defects in a human cellular model of 22q11.2 deletion syndrome
Themasap A Khan, Omer Revah, Aaron Gordon, et al.
Nature Genetics
|
March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, et al.
The Journal of Allergy and Clinical Immunology. in Practice
|
April 20, 2024
Efficacy and Safety of Systemic Corticosteroids for Urticaria: A Systematic Review and Meta-Analysis of Randomized Clinical Trials
Xiajing Chu, Jason Wang, Leonardo Ologundudu, et al.
Nature Biotechnology
|
March 29, 2022
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing
Sneha D Goenka, John E Gorzynski, Kishwar Shafin, et al.
Neurology. Genetics
|
June 15, 2026
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in <i>ABCC9</i>-Related Intellectual Disability and Myopathy Syndrome
Vini Nagaraj, Quentin Hugo Thomas, Paulo Ribeiro Nóbrega, et al.
Frontiers in Allergy
|
July 13, 2026
The Chronic Angioedema Registry: what the first 2 years since the implementation of the global registry have taught us
Thomas Buttgereit, Mathias Sulk, Jonathan A Bernstein, et al.
Page
of 61
Search research articles
Search
Showing results (501-510 of 606) with videos related to
Sort By:
Page
of 61
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 23, 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
Kelly Schoch, Cecilia Esteves, Anna Bican, et al.
The New England Journal of Medicine
|
September 8, 2010
Nanofiltered C1 inhibitor concentrate for treatment of hereditary angioedema
Bruce L Zuraw, Paula J Busse, Martha White, et al.
Journal of Genetic Counseling
|
September 4, 2019
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing
Chloe M Reuter, Jennefer N Kohler, Devon Bonner, et al.
American Journal of Medical Genetics. Part A
|
April 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling
Annie D Niehaus, Devon E Bonner, Jennefer Carter, et al.
Nature Medicine
|
September 29, 2020
Neuronal defects in a human cellular model of 22q11.2 deletion syndrome
Themasap A Khan, Omer Revah, Aaron Gordon, et al.
Nature Genetics
|
March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, et al.
The Journal of Allergy and Clinical Immunology. in Practice
|
April 20, 2024
Efficacy and Safety of Systemic Corticosteroids for Urticaria: A Systematic Review and Meta-Analysis of Randomized Clinical Trials
Xiajing Chu, Jason Wang, Leonardo Ologundudu, et al.
Nature Biotechnology
|
March 29, 2022
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing
Sneha D Goenka, John E Gorzynski, Kishwar Shafin, et al.
Neurology. Genetics
|
June 15, 2026
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in <i>ABCC9</i>-Related Intellectual Disability and Myopathy Syndrome
Vini Nagaraj, Quentin Hugo Thomas, Paulo Ribeiro Nóbrega, et al.
Frontiers in Allergy
|
July 13, 2026
The Chronic Angioedema Registry: what the first 2 years since the implementation of the global registry have taught us
Thomas Buttgereit, Mathias Sulk, Jonathan A Bernstein, et al.
Page
of 61