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M Roifman

Showing results (211-220 of 225) with videos related to

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Genome Medicine|February 7, 2025
Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain SignificanceIrena Josephina Johanna Muffels, Hans R Waterham, Giuseppina D'Alessandro, et al.
Journal of Clinical Immunology|May 10, 2013
A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedsideAhmed Aziz Bousfiha, Leïla Jeddane, Fatima Ailal, et al.
Journal of Medical Genetics|June 11, 2011
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutationsE Tsangaris, R Klaassen, C V Fernandez, et al.
Nature Communications|April 4, 2017
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory diseaseWalter H A Kahr, Fred G Pluthero, Abdul Elkadri, et al.
Blood|October 26, 2013
IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablastsLucinda J Berglund, Danielle T Avery, Cindy S Ma, et al.
Frontiers in Immunology|July 2, 2021
Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII DeficiencyFrancesca Ferrua, Ileana Bortolomai, Elena Fontana, et al.
Gastroenterology|February 22, 2020
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single CenterEileen Crowley, Neil Warner, Jie Pan, et al.
Blood|July 14, 2012
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiencyAmel Hassan, Claire Booth, Alex Brightwell, et al.
The Journal of Allergy and Clinical Immunology|June 12, 2017
Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutationsJennifer W Leiding, Satoshi Okada, David Hagin, et al.
Nature Genetics|January 11, 2011
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signatureTracy A Briggs, Gillian I Rice, Sarah Daly, et al.
Pageof 23

Showing results (211-220 of 225) with videos related to

Sort By:
Pageof 23
Genome Medicine|February 7, 2025
Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain SignificanceIrena Josephina Johanna Muffels, Hans R Waterham, Giuseppina D'Alessandro, et al.
Journal of Clinical Immunology|May 10, 2013
A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedsideAhmed Aziz Bousfiha, Leïla Jeddane, Fatima Ailal, et al.
Journal of Medical Genetics|June 11, 2011
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutationsE Tsangaris, R Klaassen, C V Fernandez, et al.
Nature Communications|April 4, 2017
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory diseaseWalter H A Kahr, Fred G Pluthero, Abdul Elkadri, et al.
Blood|October 26, 2013
IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablastsLucinda J Berglund, Danielle T Avery, Cindy S Ma, et al.
Frontiers in Immunology|July 2, 2021
Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII DeficiencyFrancesca Ferrua, Ileana Bortolomai, Elena Fontana, et al.
Gastroenterology|February 22, 2020
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single CenterEileen Crowley, Neil Warner, Jie Pan, et al.
Blood|July 14, 2012
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiencyAmel Hassan, Claire Booth, Alex Brightwell, et al.
The Journal of Allergy and Clinical Immunology|June 12, 2017
Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutationsJennifer W Leiding, Satoshi Okada, David Hagin, et al.
Nature Genetics|January 11, 2011
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signatureTracy A Briggs, Gillian I Rice, Sarah Daly, et al.
Pageof 23