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Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Maggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
Lancet (London, England)
|
February 11, 2023
An investigational oral plasma kallikrein inhibitor for on-demand treatment of hereditary angioedema: a two-part, randomised, double-blind, placebo-controlled, crossover phase 2 trial
Emel Aygören-Pürsün, Andrea Zanichelli, Danny M Cohn, et al.
The Journal of Experimental Medicine
|
May 23, 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Victoria E Rael, Julian A Yano, John P Huizar, et al.
Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology
|
March 5, 2026
Impact of Oral Sebetralstat on Anxiety Associated With Hereditary Angioedema Attacks
Timothy Craig, Emel Aygören-Pürsün, Jonathan A Bernstein, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study
Queenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
Cell Reports. Medicine
|
January 27, 2026
An encyclopedia of the cord blood metabolome reveals maternal-fetal interactions and disease risk
Samuel Lancaster, Samson Mataraso, Jonathan D Reiss, et al.
American Journal of Human Genetics
|
September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
Karin Weiss, Paulien A Terhal, Lior Cohen, et al.
American Journal of Human Genetics
|
September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Taylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
HGG Advances
|
March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations
Rodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
The Journal of Asthma : Official Journal of the Association for the Care of Asthma
|
December 22, 2021
Manifesto on inhaled triple therapy in asthma: an Interasma (Global Asthma Association - GAA) document
Fulvio Braido, Angelica Tiotiu, Guillermo Guidos-Fogelbach, et al.
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of 61
Search research articles
Search
Showing results (491-500 of 606) with videos related to
Sort By:
Page
of 61
Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Maggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
Lancet (London, England)
|
February 11, 2023
An investigational oral plasma kallikrein inhibitor for on-demand treatment of hereditary angioedema: a two-part, randomised, double-blind, placebo-controlled, crossover phase 2 trial
Emel Aygören-Pürsün, Andrea Zanichelli, Danny M Cohn, et al.
The Journal of Experimental Medicine
|
May 23, 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Victoria E Rael, Julian A Yano, John P Huizar, et al.
Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology
|
March 5, 2026
Impact of Oral Sebetralstat on Anxiety Associated With Hereditary Angioedema Attacks
Timothy Craig, Emel Aygören-Pürsün, Jonathan A Bernstein, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study
Queenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
Cell Reports. Medicine
|
January 27, 2026
An encyclopedia of the cord blood metabolome reveals maternal-fetal interactions and disease risk
Samuel Lancaster, Samson Mataraso, Jonathan D Reiss, et al.
American Journal of Human Genetics
|
September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
Karin Weiss, Paulien A Terhal, Lior Cohen, et al.
American Journal of Human Genetics
|
September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Taylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
HGG Advances
|
March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations
Rodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
The Journal of Asthma : Official Journal of the Association for the Care of Asthma
|
December 22, 2021
Manifesto on inhaled triple therapy in asthma: an Interasma (Global Asthma Association - GAA) document
Fulvio Braido, Angelica Tiotiu, Guillermo Guidos-Fogelbach, et al.
Page
of 61