Z. Gong

发表

Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type

Xuefan Gu, L. Liang, Hong-guang Zhu, 2020, Orphanet Journal of Rare Diseases.

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening

Xuefan Gu, L. Liang, Shengnan Wu, 2022, Frontiers in Genetics.

In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.

X. Mo, Qi-hua Fu, Xuefan Gu, 2019, Gene.

21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations

Xuefan Gu, L. Liang, Yongguo Yu, 2016, Steroids.

Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome.

Xuefan Gu, Jialin Gao, Huiwen Zhang, 2011, European journal of medical genetics.

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

Fei Li, X. Ji, Xuefan Gu, 2018, BMC Medical Genomics.

Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.

Xuefan Gu, Huiwen Zhang, Jun Ye, 2014, European journal of medical genetics.

Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays

Xuefan Gu, L. Liang, Yongguo Yu, 2020, Journal of Human Genetics.

High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study.

Xuefan Gu, L. Liang, Yongguo Yu, 2020, Clinical chemistry.

Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia

Xuefan Gu, L. Liang, Yongguo Yu, 2016, Steroids.

Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening

Xuefan Gu, Shengnan Wu, Huiwen Zhang, 2015, American journal of medical genetics. Part A.

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.

N. Blau, Xuefan Gu, L. Liang, 2018, Clinica chimica acta; international journal of clinical chemistry.

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

Xuefan Gu, L. Liang, Shengnan Wu, 2020, Orphanet Journal of Rare Diseases.

Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants

X. Gu, Huiwen Zhang, Jun Ye, 2015, World Journal of Pediatrics.

A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency

L. Liang, W. Qiu, B. Xiao, 2022, Molecular Syndromology.

Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder

Yongguo Yu, Z. Gong, Xueren Gao, 2018, Front. Genet..

Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies.

X. Gu, Ya-fen Zhang, Huiwen Zhang, 2011, Molecular medicine reports.

Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study

A. Dauber, L. Liang, Yongguo Yu, 2018, Cellular Physiology and Biochemistry.

Analysis of gene mutations in Chinese patients with maple syrup urine disease.

Xuefan Gu, Ya-fen Zhang, Huiwen Zhang, 2012, Molecular genetics and metabolism.

Marked yield of re‐evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities

X. Ji, Yan Xu, Wei Wei, 2018, American journal of medical genetics. Part A.

Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches

Xuefan Gu, L. Liang, Simon C. K. Ding, 2022, Frontiers in Genetics.

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study

Xuefan Gu, L. Liang, Shengnan Wu, 2021, Molecular genetics & genomic medicine.

Identification of RUNX2 variants associated with cleidocranial dysplasia

Xuefan Gu, Yongguo Yu, Kunxia Li, 2019, Hereditas.

Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia

X. Gu, Z. Gong, L. Han, 2017, World Journal of Pediatrics.

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

Xuefan Gu, Huiwen Zhang, Jun Ye, 2013, Orphanet Journal of Rare Diseases.

[Analysis of phenotypes and genotypes in 66 patients with 21-hydroxylase deficiency identified by neonatal screening].

X. Gu, Z. Gong, Y. Yu, 2016, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China

Xuefan Gu, L. Liang, Yongguo Yu, 2022, Human mutation.

Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients

Xuefan Gu, L. Liang, Ting Chen, 2021, Frontiers in Genetics.

Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type

Xuefan Gu, L. Liang, Hong-guang Zhu, 2020, Orphanet Journal of Rare Diseases.

Deep intronic PAH variants explain missing heritability in hyperphenylalaninemia.

Xuefan Gu, L. Liang, Yongguo Yu, 2023, The Journal of molecular diagnostics : JMD.

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

Xuefan Gu, L. Liang, Huiwen Zhang, 2021, Frontiers in Genetics.

[Applying multiplex ligation-dependent probe amplification in the diagnosis of 5 cases with ornithine transcarbamylase deficiency].

L. Liang, X. Gu, Z. Gong, 2016, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases

Xuefan Gu, L. Liang, Shengnan Wu, 2023, Journal of Medical Genetics.

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

X. Ji, Xuefan Gu, L. Liang, 2018, BMC medical genomics.

Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome

L. Liang, W. Qiu, Z. Gong, 2024, Orphanet journal of rare diseases.