Detalhe da pesquisa
1.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916866
2.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(4): 740-750, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239752
3.
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(12): 2467, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34667295
4.
Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.
Genes (Basel)
; 14(10)2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37895297
5.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun
; 10(1): 883, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30770872
6.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun
; 10(1): 2079, 2019 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048695
7.
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
NPJ Genom Med
; 3: 21, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30131872
8.
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun
; 9(1): 4619, 2018 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30397230