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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 2, 2023
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
Sólveig Óskarsdóttir, Erik Boot, Terrence Blaine Crowley, et al.
Nature Medicine
|
January 8, 2020
Near real-time intraoperative brain tumor diagnosis using stimulated Raman histology and deep neural networks
Todd C Hollon, Balaji Pandian, Arjun R Adapa, et al.
The New England Journal of Medicine
|
July 31, 2014
Transplantation outcomes for severe combined immunodeficiency, 2000-2009
Sung-Yun Pai, Brent R Logan, Linda M Griffith, et al.
The Journal of Allergy and Clinical Immunology
|
September 19, 2025
Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meeting
Jacques G Rivière, Lisa Bastarache, Luiza C Campos, et al.
The Journal of Experimental Medicine
|
May 5, 2021
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients
Carole Le Coz, David N Nguyen, Chun Su, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 10, 2026
<i>PTPN1</i> -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance
Daniel G Calame, Emma K Wiener, Francesco Gavazzi, et al.
The World Allergy Organization Journal
|
April 3, 2019
X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world
Zeinab A El-Sayed, Irina Abramova, Juan Carlos Aldave, et al.
Blood
|
January 24, 2025
One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them
Ainsley V C Knox, Lauren Y Cominsky, Di Sun, et al.
Journal of Crohn'S & Colitis
|
April 23, 2021
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation
Jodie Ouahed, Judith R Kelsen, Waldo A Spessott, et al.
The Journal of Allergy and Clinical Immunology
|
September 27, 2020
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study
Isabelle Meyts, Giorgia Bucciol, Isabella Quinti, et al.
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of 144
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Showing results (1401-1410 of 1,433) with videos related to
Sort By:
Page
of 144
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 2, 2023
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
Sólveig Óskarsdóttir, Erik Boot, Terrence Blaine Crowley, et al.
Nature Medicine
|
January 8, 2020
Near real-time intraoperative brain tumor diagnosis using stimulated Raman histology and deep neural networks
Todd C Hollon, Balaji Pandian, Arjun R Adapa, et al.
The New England Journal of Medicine
|
July 31, 2014
Transplantation outcomes for severe combined immunodeficiency, 2000-2009
Sung-Yun Pai, Brent R Logan, Linda M Griffith, et al.
The Journal of Allergy and Clinical Immunology
|
September 19, 2025
Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meeting
Jacques G Rivière, Lisa Bastarache, Luiza C Campos, et al.
The Journal of Experimental Medicine
|
May 5, 2021
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients
Carole Le Coz, David N Nguyen, Chun Su, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 10, 2026
<i>PTPN1</i> -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance
Daniel G Calame, Emma K Wiener, Francesco Gavazzi, et al.
The World Allergy Organization Journal
|
April 3, 2019
X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world
Zeinab A El-Sayed, Irina Abramova, Juan Carlos Aldave, et al.
Blood
|
January 24, 2025
One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them
Ainsley V C Knox, Lauren Y Cominsky, Di Sun, et al.
Journal of Crohn'S & Colitis
|
April 23, 2021
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation
Jodie Ouahed, Judith R Kelsen, Waldo A Spessott, et al.
The Journal of Allergy and Clinical Immunology
|
September 27, 2020
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study
Isabelle Meyts, Giorgia Bucciol, Isabella Quinti, et al.
Page
of 144