Detalhe da pesquisa
1.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet
; 111(4): 742-760, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479391
2.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531365
3.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34163037
4.
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Genet Med
; 22(8): 1413-1417, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32366965
5.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 2016, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522029
6.
PTPN4 germline variants result in aberrant neurodevelopment and growth.
HGG Adv
; 2(3)2021 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34527963
7.
Lysosomal storage diseases.
RN
; 71(7): 33-7; quiz 38, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18720909
8.
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
Am J Hum Genet
; 80(2): 345-52, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17236139
9.
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
Am J Med Genet A
; 120A(1): 23-7, 2003 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12794687