Detalhe da pesquisa
1.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Brain
; 147(6): 1967-1974, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38478578
2.
Digenic Inheritance in Rare Disorders and Mitochondrial Disease-Crossing the Frontier to a More Comprehensive Understanding of Etiology.
Int J Mol Sci
; 25(9)2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38731822
3.
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Front Cell Dev Biol
; 10: 1025332, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36467423
4.
LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.
Neurol Genet
; 6(5): e500, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32802957
5.
A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.
Mol Syndromol
; 11(1): 30-37, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32256299