Detalhe da pesquisa
1.
The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.
Hum Genomics
; 17(1): 36, 2023 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37098607
2.
[Analysis of a patient with Retinitis pigmentosa due to a novel variant of IMPDH1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(4): 456-460, 2024 Apr 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-38565512
3.
[Analysis of genetic etiology in a patient with 1p36 deletion syndrome in conjunct with Snijders Blok-Campeau syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(3): 363-367, 2024 Mar 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-38448030
4.
[Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(4): 467-472, 2024 Apr 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-38565514
5.
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(3): 306-311, 2024 Mar 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-38448019
6.
[Genetic analysis of eighteen patients from Gansu Province with Tetrahydrobiopterin deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(2): 129-133, 2024 Feb 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-38311548
7.
[Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China]. / çèå°åºéä¼ ä»£è°¢ç ç¾ç è°±åè´ç åºå åæ.
Zhongguo Dang Dai Er Ke Za Zhi
; 26(1): 67-71, 2024 Jan 15.
Artigo
em Chinês
| MEDLINE | ID: mdl-38269462
8.
All-optical control of topological valley transport in graphene metasurfaces.
Opt Express
; 31(6): 10401-10410, 2023 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37157587
9.
[Genetic analysis of a child patient with rare fibrochondrogenesis due to COL11A1 gene variant].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(4): 468-472, 2023 Apr 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-36972944
10.
[Analysis of genotypes and phenotypes of three children with Cornelia de Lange syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(1): 7-11, 2023 Jan 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-36584992
11.
[Clinical features and genetic analysis of a child with acute form of Tyrosinemia type I due to a novel variant of FAH gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(2): 171-176, 2023 Feb 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-36709935
12.
[Genetic analysis of a child with Pitt-Hopkins syndrome due to a novel variant of TCF4 gene derived from low percentage maternal mosaicism].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(6): 680-685, 2023 Jun 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-37212002
13.
Strigolactone mimic 2-nitrodebranone is highly active in Arabidopsis growth and development.
Plant J
; 107(1): 67-76, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33860570
14.
Molecular basis for high ligand sensitivity and selectivity of strigolactone receptors in Striga.
Plant Physiol
; 185(4): 1411-1428, 2021 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33793945
15.
Topological valley plasmon transport in bilayer graphene metasurfaces for sensing applications.
Opt Lett
; 45(11): 3151-3154, 2020 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32479482
16.
microRNA-16-5p enhances radiosensitivity through modulating Cyclin D1/E1-pRb-E2F1 pathway in prostate cancer cells.
J Cell Physiol
; 234(8): 13182-13190, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30536619
17.
Efficient ASK-assisted system for expression and purification of plant F-box proteins.
Plant J
; 92(4): 736-743, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28985004
18.
Early embryonic exposure of ionizing radiations disrupts zebrafish pigmentation.
J Cell Physiol
; 234(1): 940-949, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30144054
19.
E2F is involved in radioresistance of carbon ion induced apoptosis via Bax/caspase 3 signal pathway in human hepatoma cell.
J Cell Physiol
; 233(2): 1312-1320, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28500630
20.
Magnetization switching through domain wall motion in Pt/Co/Cr racetracks with the assistance of the accompanying Joule heating effect.
Phys Chem Chem Phys
; 20(15): 9904-9909, 2018 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29619448