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journalStr:"Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics"
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PubPharm (14)
1
Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2024
von
Yang, P.
|
Sun, Y.
|
Wang, X.
| +4
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2
Clinical features and genetic variants of a case with carnitine palmitoyltransferase 1A deficiency
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2022
von
Hong, D.
|
Wang, Y.
|
Sun, Y.
| +3
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3
Tandem mass spectrometry and genetic variant analysis of four neonates with very long chain acyl-coenzyme A dehydrogenase deficiency
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2022
von
Hong, D.
|
Wang, Y.
|
Sun, Y.
| +4
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4
Consensus on screening, diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2021
von
Division Of Genetics And Metabolomics Child Diseases And Health Care Branch Chinese Association For Maternal And Child Health
|
Chen, X.
|
Sun, Y.
| +3
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5
Analysis of AGR1 gene variants in an infant with early-onset argininemia
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2019
von
Yang, P.
|
Sun, Y.
|
Wang, Y.
| +3
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6
Clinical and genetic analysis of two children suspected for argininosuccinic aciduria
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2019
von
Cheng, W.
|
Sun, Y.
|
Wang, Y.
| +2
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7
Genetic analysis and prenatal diagnosis for 25 Chinese pedigrees affected with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2018
von
Luo, C.
|
Jiang, T.
|
Zhang, J.
| +7
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8
Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2017
von
Sun, Y.
|
Ma, D.
|
Wang, Y.
| +2
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9
Mutation screening and prenatal diagnosis of methylmalonic academia in a Chinese pedigree by Ion Torrent semiconductor sequencing
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2016
von
Li, L.
|
Ma, D.
|
Sun, Y.
| +4
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10
Detection of pathogenic mutations for methylmalonic acidemia using new-generation semiconductor targeted sequencing
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2015
von
Sun, Y.
|
Jiang, T.
|
Ma, D.
| +4
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Zeitschrift: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Medienart
14
Aufsätze
14
E-Artikel
14
E-Ressourcen
Zeitschriftentitel
Zhonghua yi xue yi chuan xue za zhi = Zhonghua ...
Thema
14
Journal Article
4
English Abstract
4
Research Support, Non-U.S. Gov't
2
CYP21A2 protein, human
2
Case Reports
2
EC 1.14.14.16
2
EC 1.14.16.1
2
Phenylalanine Hydroxylase
2
Steroid 21-Hydroxylase
1
ADAM Proteins
1
ADAM12 Protein
1
ADAM12 protein, human
1
Acyl-CoA Dehydrogenase
1
Acyl-CoA Dehydrogenase, Long-Chain
1
Alkyl and Aryl Transferases
1
Arginase
1
Argininosuccinate Synthase
1
Biomarkers
1
Carnitine
1
Carnitine O-Palmitoyltransferase
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
4
2020-
10
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
14
Chinesisch
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