Detalhe da pesquisa
1.
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.
J Med Genet
; 61(1): 8-17, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37316190
2.
Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.
Hum Mutat
; 43(5): 557-567, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35143115
3.
Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 51(3): 298-305, 2022 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36207831
4.
Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays.
J Hum Genet
; 66(4): 409-417, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33040084
5.
High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study.
Clin Chem
; 66(3): 455-462, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32031585
6.
Identification of RUNX2 variants associated with cleidocranial dysplasia.
Hereditas
; 156: 31, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31548836
7.
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.
Cell Physiol Biochem
; 49(1): 295-305, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30138938
8.
Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.
Am J Med Genet A
; 176(1): 107-115, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29159939
9.
Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.
Am J Med Genet A
; 167A(10): 2300-5, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25982642
10.
[Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 32(2): 204-7, 2015 Apr.
Artigo
em Zh
| MEDLINE | ID: mdl-25863087
11.
[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].
Zhonghua Yi Xue Za Zhi
; 94(34): 2684-6, 2014 Sep 16.
Artigo
em Zh
| MEDLINE | ID: mdl-25511598
12.
Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
Orphanet J Rare Dis
; 19(1): 75, 2024 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38365697
13.
A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.
Mol Syndromol
; 14(1): 71-79, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36777708
14.
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia.
J Mol Diagn
; 25(5): 284-294, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849017
15.
Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.
Orphanet J Rare Dis
; 18(1): 126, 2023 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37237297
16.
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
World J Pediatr
; 2023 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38070096
17.
Analysis of gene mutations in Chinese patients with maple syrup urine disease.
Mol Genet Metab
; 106(4): 412-8, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22727569
18.
[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(6): 648-52, 2012 Dec.
Artigo
em Zh
| MEDLINE | ID: mdl-23225041
19.
Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches.
Front Genet
; 13: 898860, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35846131
20.
The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening.
Front Genet
; 13: 805599, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35242167