Detalhe da pesquisa
1.
Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.
Mol Biol Rep
; 51(1): 498, 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38598037
2.
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
BMC Pediatr
; 24(1): 351, 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38778310
3.
Pathogenicity analysis and splicing rescue of a classical splice site variant (c.1343+1G>T) of CNOT1 gene associated with neurodevelopmental disorders.
Am J Med Genet A
; 191(11): 2775-2782, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507849
4.
Vitamin D metabolic pathway genes polymorphisms and vitamin D levels in association with neonatal hyperbilirubinemia in China: a single-center retrospective cohort study.
BMC Pediatr
; 23(1): 275, 2023 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37259065
5.
Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants.
Biochem Genet
; 2023 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740860
6.
The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.
Mol Biol Rep
; 49(11): 10469-10477, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36116096
7.
The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.
BMC Pediatr
; 22(1): 284, 2022 05 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35578201
8.
Beware of missed diagnosis in patients with multiple genetic diseases: a case report.
BMC Pediatr
; 22(1): 436, 2022 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35858850
9.
What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report.
BMC Pediatr
; 22(1): 459, 2022 07 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907814
10.
Clinical study of autoantibodies in type 1 diabetes mellitus children with ketoacidosis or microalbuminuria.
J Clin Lab Anal
; 36(1): e24164, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861060
11.
[Analysis of a child with severe combined immunodeficiency due to variants of DCLRE1C gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(7): 743-748, 2022 Jul 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-35810434
12.
[Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(2): 216-221, 2022 Feb 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-35076924
13.
Discovery of specific mutations in spinal muscular atrophy patients by next-generation sequencing.
Neurol Sci
; 42(5): 1827-1833, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32895776
14.
[Genetic analysis of 46,XY disorders of sex development in children caused by a new NR5A1 gene variant].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(11): 1123-1126, 2021 Nov 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-34729757
15.
[Genetic analysis of a child with very long chain acyl-CoA dehydrogenase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(9): 1009-1013, 2020 Sep 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-32820518
16.
[Analysis of DPYS gene variants in a child with dihydropyrimidase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(6): 650-652, 2020 Jun 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-32472544
17.
[Rapid screening of a hotspot variant c.609G>A in MMACHC gene by using PCR-high-resolution melting curve analysis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(7): 759-763, 2020 Jul 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-32619259
18.
[Analysis of gene variant in a Chinese child affected with dihydropyrimidinase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(11): 1241-1243, 2020 Nov 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-33179229
19.
A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report.
BMC Med Genet
; 20(1): 174, 2019 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31706290
20.
Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency.
BMC Med Genet
; 20(1): 88, 2019 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31117962