Detalhe da pesquisa
1.
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Hepatology
; 79(5): 1075-1087, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37976411
2.
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Mol Genet Metab
; 140(3): 107674, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37542768
3.
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1484-1491, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33833411
4.
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
J Inherit Metab Dis
; 43(5): 1024-1036, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32160317
5.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Brain
; 142(1): 35-49, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30508070
6.
Expanding the phenotype of GTF2E2-associated trichothiodystrophy.
J Eur Acad Dermatol Venereol
; 38(3): e222-e226, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37793898
7.
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1585, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34257424
8.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Mol Genet Genomic Med
; 12(1): e2363, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38284452
9.
Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient.
CRISPR J
; 6(1): 17-31, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36629845