Detalhe da pesquisa
1.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341651
2.
ANKRD11 variants: KBG syndrome and beyond.
Clin Genet
; 100(2): 187-200, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33955014
3.
Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.
Eur J Med Genet
; 66(7): 104774, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37120078
4.
Episignature analysis of moderate effects and mosaics.
Eur J Hum Genet
; 31(9): 1032-1039, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37365401
5.
Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants.
Children (Basel)
; 9(6)2022 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35740734
6.
Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.
Eur J Hum Genet
; 30(1): 126-132, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33785884
7.
Genotype-phenotype correlation on 45 individuals with West syndrome.
Eur J Paediatr Neurol
; 25: 134-138, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31791873
8.
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
Parkinsonism Relat Disord
; 77: 70-75, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32629324