Rulai Yang

发表

Development of a three-stage looped thermoacoustic electric generator capable of utilizing heat source below 120 °C

Yungui Wang, K. Tang, Rulai Yang, 2018 .

A case of methylmalonic acidemia and homocysteinemia cblX type with negative tandem mass spectrometry testing.

Rulai Yang, Zhenzhen Hu, Yaping Shen, 2021, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.

Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China

Zhengyan Zhao, Rulai Yang, Xinwen Huang, 2012, BMC Pediatrics.

Screening for inborn errors of metabolism in high risk children : a three-year study in Zhejiang Province , China

Zhengyan Zhao, Rulai Yang, Xinwen Huang, 2011 .

Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency

Ting Zhang, Rulai Yang, Benqing Wu, 2022, Frontiers in Molecular Biosciences.

FMR1 allele frequencies in 51,000 newborns: a large-scale population study in China

Q. Shu, Rulai Yang, Jinyu Zhang, 2021, World Journal of Pediatrics.

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates

Zhengyan Zhao, Rulai Yang, Wenjun Wang, 2022, Orphanet Journal of Rare Diseases.

Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study

Xuefan Gu, Rulai Yang, Yanling Yang, 2013, Journal of Inherited Metabolic Disease.

Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.

M. Ye, Rulai Yang, Zhenzhen Hu, 2021, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.

Genetic and epigenetic mechanisms in the development of congenital heart diseases

Rulai Yang, Yuhao Zhang, Jing Zheng, 2021, World Journal of Pediatric Surgery.

[Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province].

Rulai Yang, Zhenzhen Hu, Xinwen Huang, 2020, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.

[Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].

Zhengyan Zhao, Rulai Yang, H. Mao, 2017, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.

Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China

Rulai Yang, Xiaohui Cang, Pingping Jiang, 2023, Frontiers in Cell and Developmental Biology.

[Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1].

K. Yan, Minyue Dong, Rulai Yang, 2020, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.

Application of genetic screening processor in screening neonatal glucose-6-phosphate dehydrogenase deficiency.

Rulai Yang, Ting Zhang, Xinwen Huang, 2021, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.

Reference Standards for Newborn Screening of Metabolic Disorders by Tandem Mass Spectrometry: A Nationwide Study on Millions of Chinese Neonatal Populations

Tao Jiang, Yaping Tian, Lin Zou, 2021, Frontiers in Molecular Biosciences.

Mortality Rate for Children under 5 Years of Age in Zhejiang Province, China from 1997 to 2012

Zhengyan Zhao, Rulai Yang, Dingwan Chen, 2015, PloS one.

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China

Q. Shu, Zhengyan Zhao, Rulai Yang, 2018, Scientific Reports.

Infant mortality and life expectancy in China

Zhengyan Zhao, Rulai Yang, Chaochun Zou, 2014, Medical science monitor : international medical journal of experimental and clinical research.

A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum.

M. Qi, Qian Wu, Rulai Yang, 2020, European journal of medical genetics.

[Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].

Zhengyan Zhao, Rulai Yang, H. Mao, 2017, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.

Integration of Machine Learning Techniques as Auxiliary Diagnosis of Inherited Metabolic Disorders: Promising Experience with Newborn Screening Data

Calton Pu, Ying Li, Shuiguang Deng, 2019, CollaborateCom.

Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy

Rulai Yang, Yun Xiao, M. Guan, 2020, The Journal of Biological Chemistry.

A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations

Rulai Yang, Xinwen Huang, Lingwei Hu, 2023, Human Mutation.

[Screening for hereditary tyrosinemia and genotype analysis in newborns].

Q. Shu, Zhengyan Zhao, Rulai Yang, 2019, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China

Q. Shu, Zhengyan Zhao, Rulai Yang, 2018, Scientific Reports.

Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China.

Rulai Yang, Ting Zhang, Chi Chen, 2023, Clinica chimica acta; international journal of clinical chemistry.

Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis−10 New Cases of Congenital Hypothyroidism and a Literature Review

Q. Shu, Rulai Yang, Pingping Jiang, 2021, Frontiers in Genetics.

[Genetic analysis of newborns with abnormal metabolism of 3-hydroxyisovalerylcarnitine].

Zhengyan Zhao, Rulai Yang, Jian-bin Yang, 2019, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.

[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up].

Zhengyan Zhao, Rulai Yang, H. Mao, 2017, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.

Analysis of genotypes and biochemical phenotypes of neonates with abnormal metabolism of butyrylcarnitine

Rulai Yang, Dingwen Wu, Kexin Fang, 2023, Journal of Zhejiang University (Medical Sciences).

[Effects of delivery and storage conditions on concentrations of amino acids and carnitines in neonatal dried blood spots].

Rulai Yang, Zhenzhen Hu, Xinwen Huang, 2020, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.