Detalhe da pesquisa
1.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Brain
; 146(5): 2003-2015, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315648
2.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
3.
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Hum Mutat
; 42(6): 762-776, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847017
4.
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Neurology
; 102(2): e207945, 2024 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165337
5.
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
Pediatr Neurol
; 148: 164-171, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734130
6.
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Eur J Hum Genet
; 30(1): 101-110, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34697416
7.
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Eur J Hum Genet
; 30(3): 298-306, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35017693
8.
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Genome Med
; 14(1): 62, 2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35698242
9.
In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas.
Eur J Hum Genet
; 29(3): 489-494, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33319852
10.
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain Commun
; 3(4): fcab221, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34729478
11.
Pharmacological inhibition of focal segmental glomerulosclerosis-related, gain of function mutants of TRPC6 channels by semi-synthetic derivatives of larixol.
Br J Pharmacol
; 174(22): 4099-4122, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28800680