Detalhe da pesquisa
1.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
2.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193
3.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(6): 1239, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723631
4.
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
5.
Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation.
Am J Med Genet A
; 176(1): 219-224, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29159868
6.
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
Brain Commun
; 3(3): fcab163, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34423300