Yanling Yang

Zhaoxia Wang, Jing Chen, Yanling Yang, 2011, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family

Changxing Wu, Yanling Yang, Yi Liu, 2018, Human Genome Variation.

Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy

Yanling Yang, Yi Liu, Lulu Kang, 2020, Frontiers in Neurology.

One Potential Hotspot ACADVL Mutation in Chinese Patients with Very-long-chain Acyl-coenzyme A Dehydrogenase Deficiency.

Yanling Yang, Yi Liu, Lulu Kang, 2019, Clinica chimica acta; international journal of clinical chemistry.

Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.

Yanling Yang, Yuan Ding, Xi-yuan Li, 2015, European journal of medical genetics.

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria

K. Hsiao, Y. Qi, Shuan-Pei Lin, 2010, Journal of Human Genetics.

Mitochondrial DNA haplogroup Y is associated to Leigh syndrome in Chinese population.

Q. Kong, Ya-ping Zhang, N. Tang, 2013, Gene.

Biallelic Mutations in ACACA Cause a Disruption in Lipid Homeostasis That Is Associated With Global Developmental Delay, Microcephaly, and Dysmorphic Facial Features

Hanxiao Chen, J. Lyu, Yanling Yang, 2021, Frontiers in Cell and Developmental Biology.

[A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation].

Q. Kong, Y. Qi, Yanling Yang, 2009, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies.

Zhaoxia Wang, Yun Yuan, Y. Qi, 2007, Mitochondrion.

Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation

Yidong Bai, Yanling Yang, Hezhi Fang, 2015, Scientific Reports.

Genetic and biochemical findings in Chinese children with Leigh syndrome

L. Zou, Yanling Yang, Xi-yuan Li, 2013, Journal of Clinical Neuroscience.

[Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study].

Y. Qi, Yanling Yang, Jiangxi Xiao, 2007, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Epilepsy in children with methylmalonic acidemia: Electroclinical features and prognosis

Zhixian Yang, Yuehua Zhang, X. Bao, 2011, Brain and Development.

[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].

X. Gu, Yanling Yang, Ya-fen Zhang, 2009, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[Clinical studies on fifty-seven Chinese patients with combined methylmalonic aciduria and homocysteinemia].

Yuehua Zhang, Rong Yan, Yanling Yang, 2007, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[Methylenetetrahydrofolate reductase deficiency-induced schizophrenia in a school-age boy].

Yanling Yang, Yuan Ding, Xi-yuan Li, 2014, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family☆

X. Bao, Feixia Zheng, Yanling Yang, 2015, Molecular genetics and metabolism reports.

Systematic analysis of a mitochondrial disease‐causing ND6 mutation in mitochondrial deficiency

J. Lyu, Yanling Yang, Hezhi Fang, 2020, Molecular genetics & genomic medicine.

Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses.

Yanling Yang, Yuan Ding, Xi-yuan Li, 2016, European journal of medical genetics.

Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay

J. Lyu, Yanling Yang, Hezhi Fang, 2020, Journal of Human Genetics.

Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis

Yanling Yang, Yi Liu, Lulu Kang, 2023, Frontiers in Nutrition.

[Gene mutation analysis in patients with propionic acidemia].

X. Gu, Li Liu, Yanling Yang, 2008, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid.

Y. Hasegawa, S. Yamaguchi, Rong Yan, 2008, Chinese medical journal.

Clinical and Biochemical Studies on Chinese Patients With Methylmalonic Aciduria

Yuehua Zhang, Y. Hasegawa, S. Yamaguchi, 2006, Journal of child neurology.

Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder

Yanling Yang, X. Chang, H. Xiong, 2023, Frontiers in Pediatrics.

Identification of three novel 6‐pyruvoyl‐tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116‐119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency

K. Hsiao, Tze-tze Liu, Yanling Yang, 2001, Human mutation.

Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing

Hai-po Yang, Yanling Yang, Xiaoqing Li, 2017, Scientific Reports.

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A

Ming Yan, F. Fang, Yanling Yang, 2017, Scientific Reports.

[Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA].

Yanling Yang, Yuan Ding, Xi-yuan Li, 2015, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population

Yanhan Li, Yanling Yang, Jun Li, 2019, Kidney and Blood Pressure Research.

Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts

Linhao Yang, M. Hei, X. Gu, 2022, World Journal of Pediatrics.

[The mutant spectrum of phenylalanine hydroxylase gene in Northern Chinese].

Y. Qu, Hong Wang, F. Song, 2007, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A

Ming Yan, F. Fang, Yanling Yang, 2017, Scientific Reports.

Identification of Two Novel Compound Heterozygous EIF2AK3 Mutations Underlying Wolcott–Rallison Syndrome in a Chinese Family

Changxing Wu, Yanling Yang, Ping Li, 2021, Frontiers in Pediatrics.

Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria

Yanling Yang, Yi Liu, Dongxiao Li, 2022, PloS one.

Reduced 24-h Sodium Excretion Is Associated With a Disturbed Plasma Acylcarnitine Profile in Vasovagal Syncope Children: A Pilot Study

Guozhen Chen, Junbao Du, Yaqian Huang, 2020, Frontiers in Pediatrics.

[Unbalanced translocation t (5;15) in a patient with Prader-Willi syndrome].

Hong Wang, J. Bai, F. Song, 2010, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

[Mutations in exon 7 of the phenylalanine hydroxylase (PAH) gene in chinese patients with phenylketonuria].

Hong Wang, F. Song, Yanling Yang, 2005, Yi chuan = Hereditas.