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/vufind/Search/Results?lookfor=%22Yang%2C+Rulai%22&type=Person&sort=year
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PubPharm (52)
1
Progress of newborn screening in China
enthalten in:
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
| 2023
von
Jiang, H.
|
Yang, R.
|
Dong, A.
| +2
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2
Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022
enthalten in:
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
| 2023
von
Zhou, D.
|
Yang, R.
|
Huang, X.
| +5
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3
Analysis of genotypes and biochemical phenotypes of neonates with abnormal metabolism of butyrylcarnitine
enthalten in:
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
| 2023
von
Wu, D.
|
Yang, R.
|
Fang, K.
| +4
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4
Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening
enthalten in:
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
| 2023
von
Zhang, Z.
|
Tong, F.
|
Chen, C.
| +6
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5
Association Analysis of Gene Sequencing by NeoSeq Combined with Tandem Mass Spectrum and Four Neonatal Diseases
enthalten in:
Clinical laboratory
| 2023
von
Xue, S.
|
Zhu, J.
|
Zhang, H.
| +4
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6
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
enthalten in:
Clinica chimica acta; international journal of clinical chemistry
| 2023
von
Zhang, T.
|
Shen, Y.
|
Xu, Y.
| +3
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7
A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2023
von
Zhuang, D.
|
Wang, F.
|
Ding, S.
| +7
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8
Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2023
von
Zhao, H.
|
Zhou, D.
|
Miao, H.
| +4
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9
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Huang, X.
|
Wu, D.
|
Zhu, L.
| +8
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10
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Huang, X.
|
Wu, D.
|
Zhu, L.
| +8
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52
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15
Zhejiang da xue xue bao. Yi xue ban = Journal o...
7
Zhonghua yi xue yi chuan xue za zhi = Zhonghua ...
4
Journal of inherited metabolic disease
3
BMC pediatrics
3
Orphanet journal of rare diseases
2
Frontiers in molecular biosciences
2
Journal of medical screening
2
The journal of pediatric endocrinology and meta...
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BMC Pediatrics
1
Clinica chimica acta; international journal of ...
1
Clinical laboratory
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European journal of medical genetics
1
Frontiers in cell and developmental biology
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International journal of pediatric endocrinology
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Medical science monitor : international medical...
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PloS one
1
Scientific reports
1
The Journal of biological chemistry
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Thema
38
Journal Article
8
Research Support, Non-U.S. Gov't
8
Tandem mass spectrometry
7
Carnitine
7
Case Reports
6
S7UI8SM58A
4
Newborn screening
3
Aminoacidemia
3
Biopterin
3
Developmental Quotient
3
Fatty acid oxidation disorders
3
GCH1 Gene
3
Gene Mutation Analysis
3
Gene mutation
3
Inborn errors of metabolism
3
Inherited disorders
3
Multiple PCR
3
Neonatal Screening
3
Neonatal screening
3
Newborn genetic screening
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Erscheinungszeitraum
27
2020-
25
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
33
Englisch
16
Chinesisch
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