Detalhe da pesquisa
1.
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
; 60(10): 999-1005, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37185208
2.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35232796
3.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Genet Med
; 23(5): 881-887, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33473207
4.
Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.
J Med Genet
; 56(2): 75-80, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30368457
5.
Outcomes and comorbidities of SCN1A-related seizure disorders.
Epilepsy Behav
; 90: 252-259, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30527252
6.
Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes.
Epilepsia
; 59(6): 1154-1165, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29750338
7.
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
Epilepsia
; 59(3): 690-703, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29460957
8.
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
J Med Genet
; 53(12): 850-858, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27358180
9.
Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.
Am J Med Genet A
; 170(9): 2431-5, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27338644
10.
Modifier genes in SCN1A-related epilepsy syndromes.
Mol Genet Genomic Med
; 8(4): e1103, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32032478
11.
Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.
Mol Genet Genomic Med
; 7(7): e00727, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31144463