Detalhe da pesquisa
1.
RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.
Retina
; 43(10): 1788-1796, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37418643
2.
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Genet Med
; 23(6): 1158-1162, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531666
3.
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Hum Mutat
; 39(1): 23-39, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29068161
4.
Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder.
J Pediatr
; 196: 270-274.e1, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29398060
5.
Williams-Beuren syndrome in diverse populations.
Am J Med Genet A
; 176(5): 1128-1136, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681090
6.
Identification of a de novo Case of COL3A1-Related Ehlers-Danlos Syndrome in a Young Woman Presenting With Spontaneous Direct Carotid-Cavernous Fistula.
J Neuroophthalmol
; 2023 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37418611
7.
Somatic mutations in cerebral cortical malformations.
N Engl J Med
; 371(8): 733-43, 2014 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25140959
8.
Down syndrome in diverse populations.
Am J Med Genet A
; 173(1): 42-53, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27991738
9.
Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
Hum Genomics
; 9: 33, 2015 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26666243
10.
Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia.
Clin Dysmorphol
; 33(2): 63-68, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38441200
11.
Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.
Mol Genet Genomic Med
; 12(1): e2285, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740604
12.
Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1.
J Pediatr Genet
; 12(2): 135-140, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37090834
13.
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Front Public Health
; 11: 1079601, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36935719
14.
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Front Public Health
; 11: 1248260, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37822540
15.
Somatic mutations in cerebral cortical malformations.
N Engl J Med
; 371(21): 2038, 2014 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25409382
16.
Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I.
Mol Genet Metab
; 106(4): 488-90, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22771013
17.
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Nat Commun
; 13(1): 6694, 2022 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36335097
18.
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.
Ophthalmic Genet
; 42(3): 266-275, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33624564
19.
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
Am J Med Genet A
; 167(6): 1400-5, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25846266
20.
Dominant-negative NFKBIA mutation promotes IL-1ß production causing hepatic disease with severe immunodeficiency.
J Clin Invest
; 130(11): 5817-5832, 2020 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32750042