Detalhe da pesquisa
1.
A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature.
Hum Genet
; 140(7): 1047-1060, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33721060
2.
Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel.
J Hum Genet
; 64(11): 1097-1106, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31471553
3.
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.
J Hum Genet
; 61(4): 335-43, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26740234
4.
Identification of a Biallelic Missense Variant in Gasdermin D (c.823G > C, p.Asp275His) in a Patient of Atypical Gorham-Stout Disease in a Consanguineous Family.
JBMR Plus
; 7(9): e10784, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37701150
5.
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
PLoS One
; 12(8): e0181791, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28783747
6.
Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss.
Genet Test Mol Biomarkers
; 14(5): 611-6, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20722495