Detalhe da pesquisa
1.
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Am J Med Genet A
; 194(1): 17-30, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37743782
2.
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Hum Mutat
; 41(3): 591-599, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31821646
3.
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Am J Hum Genet
; 98(5): 1001-1010, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108799
4.
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(11): 2663, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31267042
5.
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(12): 2713-2722, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155615
6.
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Sci Adv
; 6(49)2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33268356
7.
The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2.
Clin Case Rep
; 6(9): 1815-1817, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30214770
8.
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.
Eur J Hum Genet
; 26(9): 1294-1305, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29748569
9.
The Impact of Fabry Disease on Reproductive Fitness.
JIMD Rep
; 37: 85-97, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28324326