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American Journal of Human Genetics
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February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
Lindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology
|
April 5, 2026
2025 Inborn errors of immunity practice parameter: Guidance from the Joint Task Force on Practice Parameters, the American Academy of Allergy, Asthma & Immunology (AAAAI), the American College of Allergy, Asthma and Immunology (ACAAI) and the Clinical Immunology Society (CIS)
Jordan S Orange, Javier Chinen, Caroline C Horner, et al.
American Journal of Human Genetics
|
January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
Ivana Lessel, Anja Baresic, Ivan K Chinn, et al.
The Journal of Allergy and Clinical Immunology
|
September 1, 2016
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
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of 14
Search research articles
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Showing results (131-140 of 135) with videos related to
Sort By:
Page
of 14
You have reached the last page of results.
This site can display upto 135 results.
American Journal of Human Genetics
|
February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
Lindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology
|
April 5, 2026
2025 Inborn errors of immunity practice parameter: Guidance from the Joint Task Force on Practice Parameters, the American Academy of Allergy, Asthma & Immunology (AAAAI), the American College of Allergy, Asthma and Immunology (ACAAI) and the Clinical Immunology Society (CIS)
Jordan S Orange, Javier Chinen, Caroline C Horner, et al.
American Journal of Human Genetics
|
January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
Ivana Lessel, Anja Baresic, Ivan K Chinn, et al.
The Journal of Allergy and Clinical Immunology
|
September 1, 2016
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
Page
of 14