Detalhe da pesquisa
1.
Exome sequencing as the first-tier test for pediatric respiratory diseases: A single-center study.
Hum Mutat
; 42(7): 891-900, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942430
2.
[Identification of variants in TNNI3 gene in two children with restrictive cardiomyopathy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(8): 731-734, 2021 Aug 10.
Artigo
em Zh
| MEDLINE | ID: mdl-34365612
3.
Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.
BMC Med Genet
; 20(1): 182, 2019 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31727123
4.
[Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(12): 1187-1190, 2019 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-31813144
5.
[Molecular diagnosis and functional study of a pedigree affected with Lubs X-linked mental retardation syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(4): 340-343, 2019 Apr 10.
Artigo
em Zh
| MEDLINE | ID: mdl-30950021
6.
De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
Am J Med Genet A
; 170(6): 1613-21, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27028180
7.
[Genetic diagnosis and analysis for two cases of ring chromosome 22].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(4): 494-7, 2016 Aug.
Artigo
em Zh
| MEDLINE | ID: mdl-27455005
8.
Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).
Clin Chem
; 61(1): 172-81, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25376582
9.
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.
J Hum Genet
; 60(8): 435-42, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25972034
10.
Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.
Gene
; 894: 147985, 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37956963
11.
Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review.
BMC Med Genomics
; 16(1): 245, 2023 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37833669
12.
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
Orphanet J Rare Dis
; 18(1): 371, 2023 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38037133
13.
Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests.
Front Genet
; 14: 1108440, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37035742
14.
NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disorders.
BMJ Paediatr Open
; 7(1)2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37407247
15.
Behavioural deficits of autism spectrum disorder and associations with different gene clusters: a study with the whole-genome transmission disequilibrium test.
BMJ Paediatr Open
; 7(1)2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37407249
16.
Genotypes and clinical intervention of patients with neurofibromatosis type 1 associated dystrophic scoliosis.
Front Pediatr
; 10: 918136, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36061378
17.
Molecular identification of T-box transcription factor 6 and prognostic assessment in patients with congenital scoliosis: A single-center study.
Front Med (Lausanne)
; 9: 941468, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36035411
18.
Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy.
Front Med (Lausanne)
; 9: 944950, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36111109
19.
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants.
Genet Test Mol Biomarkers
; 26(12): 573-581, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36577126
20.
Case report: Clinical features and prognosis of two Infants with rhabdomyosarcoma of the tongue.
Front Oncol
; 12: 934882, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36686750