Detalhe da pesquisa
1.
Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNA.
Hum Mol Genet
; 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676628
2.
Prenatal diagnosis of Noonan syndrome in a set of monozygotic twins- a case report.
BMC Pregnancy Childbirth
; 23(1): 10, 2023 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609239
3.
Acaricidal and repellent activities of ethanol extracts of nine chinese medicinal herbs against Rhipicephalus microplus (Acari: Ixodidae).
Exp Appl Acarol
; 91(1): 69-87, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37522955
4.
[Prenatal diagnosis of a fetus with 8q13.3 microdeletion through chromosomal microarray analysis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(3): 268-270, 2021 Mar 10.
Artigo
em Zh
| MEDLINE | ID: mdl-33751539
5.
Plasmonic hybridization generation in self-aligned disk/hole nanocavities for multi-resonance sensing.
Opt Express
; 28(24): 36455-36465, 2020 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33379738
6.
A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family.
BMC Cardiovasc Disord
; 20(1): 27, 2020 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31959127
7.
Next-generation sequencing: a follow-up of 36,913 singleton pregnancies with noninvasive prenatal testing in central China.
J Assist Reprod Genet
; 37(12): 3143-3150, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33094428
8.
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(12): 1360-1363, 2020 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-33306822
9.
[Establishment of medians for maternal serum markers in Down's syndrome screening during the second trimester of pregnancy in north-central region of Jiangxi Province].
Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 42(7): 831-835, 2017 Jul 28.
Artigo
em Zh
| MEDLINE | ID: mdl-28845009
10.
A Retrospective Analysis of Robertsonian Translocations from a Single Center in China.
Reprod Sci
; 31(3): 851-856, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37932552
11.
Mode-Coupling Generation Using ITO Nanodisk Arrays with Au Substrate Enabling Narrow-Band Biosensing.
Biosensors (Basel)
; 13(6)2023 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37367014
12.
Association between aberrant amino acid metabolism and nonchromosomal modifications fetal structural anomalies: A cohort study.
Front Endocrinol (Lausanne)
; 14: 1072461, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36909308
13.
Analysis of chromosomal structural variations in patients with recurrent spontaneous abortion using optical genome mapping.
Front Genet
; 14: 1248755, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37732322
14.
Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7.
Front Genet
; 14: 1290949, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38179410
15.
Characteristics and clinical evaluation of X chromosome translocations.
Mol Cytogenet
; 16(1): 36, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129867
16.
α,ω-Dihexylsexithiophene self-assembled nanostructures on mica: atomic force microscopy study.
Microsc Microanal
; 18(4): 844-51, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22832244
17.
Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy.
Front Neurol
; 13: 904027, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35873758
18.
Evaluation of the in vitro acaricidal activity of Chinese herbal compounds on the poultry red mite (Dermanyssus gallinae).
Front Vet Sci
; 9: 996422, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36238438
19.
Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province.
Front Genet
; 13: 1077729, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36583021
20.
Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China.
Front Genet
; 13: 992073, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36246595