Detalhe da pesquisa
1.
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.
J Allergy Clin Immunol
; 152(3): 736-747, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37277074
2.
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
J Exp Med
; 221(6)2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38563820
3.
Kleefstra syndrome: Impact on parents.
Disabil Health J
; 14(2): 101018, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33189624
4.
WNT10A Mutation Causes Ectodermal Dysplasia in a Patient Mosaic for Turner Syndrome.
J Clin Aesthet Dermatol
; 13(6): 57-58, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32884623
5.
Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
J Exp Med
; 221(6)2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38709237