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1.
Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review.
Front Immunol
; 14: 1186575, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37377976
2.
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.
Genes (Basel)
; 14(6)2023 05 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-37372373
3.
Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.
Front Immunol
; 14: 1287258, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38115997
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