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1.
Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis.
Front Immunol
; 12: 673487, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33936120
2.
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.
Stem Cell Res
; 42: 101660, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31794943
3.
Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome.
Stem Cell Res
; 35: 101393, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30711802
4.
Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.
Stem Cell Res
; 41: 101623, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31698194
5.
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B.
Stem Cell Res
; 41: 101620, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31678772
6.
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.
Stem Cell Res
; 41: 101580, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31644995
7.
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Crohn's disease.
Stem Cell Res
; 40: 101548, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31536868
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