Detalhe da pesquisa
1.
Restoring T and B cell generation in X-linked severe combined immunodeficiency mice through hematopoietic stem cells adenine base editing.
Mol Ther
; 32(6): 1658-1671, 2024 Jun 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38532630
2.
Novel compound heterozygous variants in ARL13B lead to Joubert syndrome.
J Cell Physiol
; 239(4): e31189, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38219074
3.
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
Inglês
| MEDLINE | ID: mdl-37098607
4.
Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.
Ophthalmic Res
; 67(1): 62-75, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38091959
5.
[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
Chinês
| MEDLINE | ID: mdl-38311548
6.
[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
Chinês
| MEDLINE | ID: mdl-38269462
7.
[A case of mental retardation caused by a frameshift variant of SYNGAP1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(1): 57-61, 2023 Jan 10.
Artigo
Chinês
| MEDLINE | ID: mdl-36585002
8.
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing.
J Hum Genet
; 67(11): 643-649, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-35982127
9.
[Genetic analysis of two Chinese families with maple syrup urine disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(7): 689-693, 2022 Jul 10.
Artigo
Chinês
| MEDLINE | ID: mdl-35810422
10.
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.
Genet Med
; 23(6): 1041-1049, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33531668
11.
Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.
J Clin Lab Anal
; 35(1): e23567, 2021 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-32909271
12.
[Study on newborn screening for Duchenne muscular dystrophy and diagnostic strategy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(5): 430-434, 2021 May 10.
Artigo
Chinês
| MEDLINE | ID: mdl-33974249
13.
[Wiedemann-Steiner syndrome due to novel nonsense variant of KMT2A gene in a case].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(2): 138-140, 2021 Feb 10.
Artigo
Chinês
| MEDLINE | ID: mdl-33565066
14.
Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.
BMC Med Genet
; 21(1): 192, 2020 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33004012
15.
Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome.
J Clin Lab Anal
; 34(9): e23407, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32666542
16.
Mutation screening of crystallin genes in Chinese families with congenital cataracts.
Mol Vis
; 25: 427-437, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31523120
17.
A multiplex droplet digital PCR assay for non-invasive prenatal testing of fetal aneuploidies.
Analyst
; 144(7): 2239-2247, 2019 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-30663740
18.
Novel mutations in HSF4 cause congenital cataracts in Chinese families.
BMC Med Genet
; 19(1): 150, 2018 08 24.
Artigo
Inglês
| MEDLINE | ID: mdl-30143024
19.
Correction to: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.
Genet Med
; 23(6): 1175, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-33972723
20.
Folic acid supplementation, preconception body mass index, and preterm delivery: findings from the preconception cohort data in a Chinese rural population.
BMC Pregnancy Childbirth
; 15: 336, 2015 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26670558