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1.
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.
J Clin Immunol
; 44(2): 54, 2024 Jan 24.
Article
in English
| MEDLINE | ID: mdl-38265673
2.
Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.
J Clin Immunol
; 43(8): 1953-1963, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37597073
3.
OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers.
J Clin Immunol
; 44(4): 95, 2024 Apr 05.
Article
in English
| MEDLINE | ID: mdl-38578307
4.
Somatic genetic variation in healthy tissue and non-cancer diseases.
Eur J Hum Genet
; 31(1): 48-54, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36289407
5.
Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report.
Front Immunol
; 13: 897975, 2022.
Article
in English
| MEDLINE | ID: mdl-35784294
6.
Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.
Front Immunol
; 13: 1014984, 2022.
Article
in English
| MEDLINE | ID: mdl-36466883
7.
Assessment of the gene mosaicism burden in blood and its implications for immune disorders.
Sci Rep
; 11(1): 12940, 2021 06 21.
Article
in English
| MEDLINE | ID: mdl-34155260
8.
Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing.
Eur J Med Genet
; 63(5): 103920, 2020 May.
Article
in English
| MEDLINE | ID: mdl-32222431
9.
FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.
Front Immunol
; 11: 107, 2020.
Article
in English
| MEDLINE | ID: mdl-32076423
10.
[Translated article] Treatment of juvenile recurrent respiratory papillomatosis in a pediatric lung transplant recipient.
Farm Hosp
; 2024 May 16.
Article
in English, Spanish
| MEDLINE | ID: mdl-38760191
11.
Treatment of juvenile recurrent respiratory papillomatosis in a lung transplantation recipient pediatric patient. / Tratamiento de la papilomatosis recurrente respiratoria juvenil en un paciente pediátrico receptor de trasplante pulmonar.
Farm Hosp
; 2024 Mar 11.
Article
in English, Spanish
| MEDLINE | ID: mdl-38472063
12.
Flow Sorting Enrichment and Nanopore Sequencing of Chromosome 1 From a Chinese Individual.
Front Genet
; 10: 1315, 2019.
Article
in English
| MEDLINE | ID: mdl-31998370
13.
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
Front Immunol
; 9: 636, 2018.
Article
in English
| MEDLINE | ID: mdl-29867916
14.
Publisher Correction: Assessment of the gene mosaicism burden in blood and its implications for immune disorders.
Sci Rep
; 11(1): 17030, 2021 Aug 17.
Article
in English
| MEDLINE | ID: mdl-34404866
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