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.
Result of a Pilot External Quality Assessment Scheme for Clinical Diagnosis of Inherited Metabolic Disorders in China.
Clin Lab
; 70(4)2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38623669
3.
[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 Zh
| MEDLINE | ID: mdl-38565512
4.
[Clinical and molecular genetic analysis of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(5): 612-616, 2024 May 10.
Artigo
em Zh
| MEDLINE | ID: mdl-38684311
5.
[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 Zh
| MEDLINE | ID: mdl-38565514
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 Zh
| MEDLINE | ID: mdl-38311548
7.
[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 Zh
| MEDLINE | ID: mdl-38448019
8.
[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 Zh
| MEDLINE | ID: mdl-38269462
9.
[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 Zh
| MEDLINE | ID: mdl-36584992
10.
[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 Zh
| MEDLINE | ID: mdl-36709935
11.
[Prenatal diagnosis for a fetus with Walker-Warburg syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(5): 572-576, 2023 May 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37102292
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 Zh
| MEDLINE | ID: mdl-37212002
13.
[Clinical features and genetic analysis of a child with 3-methylglutenedioic aciduria type VII due to novel variants of CLPB gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(11): 1377-1381, 2023 Nov 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37906145
14.
Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria.
Hum Mutat
; 43(1): 56-66, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34747549
15.
[Genetic analysis of 21 cases of methylmalonic acidemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(4): 362-365, 2022 Apr 10.
Artigo
em Zh
| MEDLINE | ID: mdl-35446966
16.
[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
em Zh
| MEDLINE | ID: mdl-35810422
17.
Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.
J Clin Lab Anal
; 35(1): e23567, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32909271
18.
Prenatal sonographic diagnosis of X-linked hypohidrotic ectodermal dysplasia: An unusual case.
J Clin Ultrasound
; 49(8): 838-840, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991347
19.
Compound heterozygous variants of the FBXO7 gene resulting in infantile-onset Parkinsonian-pyramidal syndrome in siblings of a Chinese family.
J Clin Lab Anal
; 34(8): e23324, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32274857
20.
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
em Inglês
| MEDLINE | ID: mdl-32666542