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Human Mutation
|
September 13, 2013
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities
Hanna IJspeert, Adilia Warris, Michiel van der Flier, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology
|
October 19, 2024
Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood
Esra Hazar, Mehmet Ali Karaselek, Hasan Kapakli, et al.
The Journal of Allergy and Clinical Immunology
|
April 29, 2014
Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-α 2b therapy
Sevgi Keles, Haifa H Jabara, Ismail Reisli, et al.
Pediatric Transplantation
|
July 1, 2017
Hematopoietic stem cell transplantation from unrelated donors in children with DOCK8 deficiency
Dilara Fatma K Uygun, Vedat Uygun, İsmail Reisli, et al.
The Journal of Allergy and Clinical Immunology
|
October 20, 2019
Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1
Ye Cui, Sevgi Keles, Louis-Marie Charbonnier, et al.
The Journal of Emergency Medicine
|
January 22, 2013
Predicting hospitalization in children with acute asthma
A Betul Buyuktiryaki, Ersoy Civelek, Demet Can, et al.
The Journal of Allergy and Clinical Immunology
|
April 29, 2015
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency
Kerstin Felgentreff, Yu Nee Lee, Francesco Frugoni, et al.
The Journal of Allergy and Clinical Immunology
|
January 15, 2014
Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation
Menno C van Zelm, Sophinus J W Bartol, Gertjan J Driessen, et al.
The Journal of Allergy and Clinical Immunology
|
June 29, 2016
Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes T<sub>H</sub>17 cell differentiation
Sevgi Keles, Louis Marie Charbonnier, Venkataraman Kabaleeswaran, et al.
Journal of Clinical Immunology
|
March 26, 2026
A Novel Pathogenic Variant in TRAC Gene Associated with SCID Phenotype: Expanding the Genetic and Clinical Spectrum
Mehmet Ali Karaselek, Mehmet Yavuz Ozbey, Vedat Uygun, et al.
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of 14
Search research articles
Search
Showing results (81-90 of 139) with videos related to
Sort By:
Page
of 14
Human Mutation
|
September 13, 2013
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities
Hanna IJspeert, Adilia Warris, Michiel van der Flier, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology
|
October 19, 2024
Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood
Esra Hazar, Mehmet Ali Karaselek, Hasan Kapakli, et al.
The Journal of Allergy and Clinical Immunology
|
April 29, 2014
Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-α 2b therapy
Sevgi Keles, Haifa H Jabara, Ismail Reisli, et al.
Pediatric Transplantation
|
July 1, 2017
Hematopoietic stem cell transplantation from unrelated donors in children with DOCK8 deficiency
Dilara Fatma K Uygun, Vedat Uygun, İsmail Reisli, et al.
The Journal of Allergy and Clinical Immunology
|
October 20, 2019
Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1
Ye Cui, Sevgi Keles, Louis-Marie Charbonnier, et al.
The Journal of Emergency Medicine
|
January 22, 2013
Predicting hospitalization in children with acute asthma
A Betul Buyuktiryaki, Ersoy Civelek, Demet Can, et al.
The Journal of Allergy and Clinical Immunology
|
April 29, 2015
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency
Kerstin Felgentreff, Yu Nee Lee, Francesco Frugoni, et al.
The Journal of Allergy and Clinical Immunology
|
January 15, 2014
Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation
Menno C van Zelm, Sophinus J W Bartol, Gertjan J Driessen, et al.
The Journal of Allergy and Clinical Immunology
|
June 29, 2016
Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes T<sub>H</sub>17 cell differentiation
Sevgi Keles, Louis Marie Charbonnier, Venkataraman Kabaleeswaran, et al.
Journal of Clinical Immunology
|
March 26, 2026
A Novel Pathogenic Variant in TRAC Gene Associated with SCID Phenotype: Expanding the Genetic and Clinical Spectrum
Mehmet Ali Karaselek, Mehmet Yavuz Ozbey, Vedat Uygun, et al.
Page
of 14