Detalhe da pesquisa
1.
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
Proc Natl Acad Sci U S A
; 120(9): e2102569120, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36802443
2.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; 194(7): e63531, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421086
3.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
J Med Genet
; 60(2): 183-192, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393335
4.
Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.
J Inherit Metab Dis
; 45(2): 215-222, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34687058
5.
Early Seizure Recurrence in Children Admitted for Nonfebrile Seizures in the Emergency Department: A Prospective Study.
Neuropediatrics
; 53(6): 440-444, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35777663
6.
Laboratory medicine unveiling an unusual cause of D-lactic acidosis as the trigger of decompensation of a rare inborn error of metabolism.
Clin Chem Lab Med
; 61(12): e263-e267, 2023 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37327352
7.
From childhood to adulthood: health care use in individuals with cerebral palsy.
Dev Med Child Neurol
; 60(12): 1271-1277, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30171608
8.
A Hemimotor Deficit in an 18-Month-Old Boy Revealing Acute Myelitis.
Neuropediatrics
; 50(5): 332-333, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31009954
9.
Central Nervous System Involvement of Hemophagocytic Lymphohistiocytosis: When 18F-FDG PET/CT Solves a Complex Diagnostic Investigation.
Clin Nucl Med
; 46(10): 832-836, 2021 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33883485