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1.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
J Allergy Clin Immunol
; 149(1): 369-378, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33991581
2.
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
J Clin Immunol
; 41(6): 1272-1290, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33929673
3.
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
Blood
; 134(18): 1510-1516, 2019 10 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-31501153
4.
Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice.
Hum Mol Genet
; 27(6): 954-968, 2018 03 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29325092
5.
VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.
Nucleic Acids Res
; 45(W1): W567-W572, 2017 07 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28520890
6.
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.
Br J Haematol
; 182(2): 251-258, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29797310
7.
Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle.
J Clin Immunol
; 40(1): 223-226, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31686313
8.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
J Allergy Clin Immunol
; 143(6): 2317-2321.e12, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30822429
9.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Nat Commun
; 15(1): 1640, 2024 Feb 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38388531
10.
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Res Sq
; 2023 Sep 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37720017
11.
Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature.
Allergy Asthma Clin Immunol
; 18(1): 111, 2022 Dec 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-36566211
12.
Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.
Endocr Metab Immune Disord Drug Targets
; 22(1): 159-168, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-33634762
13.
Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.
Sci Immunol
; 6(65): eabe3981, 2021 Nov 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-34826259
14.
CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman.
Front Immunol
; 11: 1593, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32849540
15.
Short-term in-vitro expansion improves monitoring and allows affordable generation of virus-specific T-cells against several viruses for a broad clinical application.
PLoS One
; 8(4): e59592, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23630567
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