Detalhe da pesquisa
1.
Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.
J Allergy Clin Immunol
; 152(3): 771-782, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37150360
2.
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
J Immunol
; 207(1): 133-152, 2021 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34183371
3.
Cancer-causing MAP2K1 mutation in a mosaic patient with cardio-facio-cutaneous syndrome and immunodeficiency.
Hum Mutat
; 43(12): 1852-1855, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36054331
4.
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
Pediatr Blood Cancer
; 62(9): 1597-600, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25946618
5.
Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome.
Orphanet J Rare Dis
; 18(1): 74, 2023 04 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37041648
6.
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Front Immunol
; 11: 900, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32655540
7.
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Nat Genet
; 36(5): 449-51, 2004 May.
Artigo
Inglês
| MEDLINE | ID: mdl-15064763