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language:"Chinese"
journalStr:"Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics"
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PubPharm (10)
1
Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2023
von
Li, L.
|
Luo, S.
|
Zhang, Y.
| +5
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2
Analysis of CLCN4 gene variant in a child with Raynaud-Claes syndrome
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2023
von
Li, L.
|
Luo, S.
|
Mei, S.
| +6
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3
Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2023
von
Chen, C.
|
Zhang, Y.
|
Ge, L.
| +4
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4
Clinical and genetic analysis of two rare male patients with Rett syndrome
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2022
von
Zheng, X.
|
Liu, L.
|
Wang, Y.
| +6
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5
Clinical characteristics and genetic analysis of a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to compound heterozygous variants of RRM2B gene
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2022
von
Wang, Y.
|
Zheng, X.
|
Wang, X.
| +4
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6
Analysis of NF1 gene variants among thirteen patients with neurofibromatosis type 1
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2021
von
Ge, L.
|
Zhang, Y.
|
Liu, L.
| +3
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7
Clinical and genetic analysis of a case with infantile Parkinsonism with motor delay due to tyrosine hydroxylase deficiency
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2020
von
Chen, C.
|
Kong, J.
|
Ge, L.
| +2
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8
Clinical and genetic diagnosis of a pedigree affected with autosomal recessive Alport syndrome
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2019
von
Ge, L.
|
Chen, C.
|
Liu, L.
| +1
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9
Application of array comparative genomic hybridization in prenatal diagnosis of a case with 5q35 deletion syndrome
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2017
von
Feng, Z.
|
Hu, H.
|
Mao, C.
| +5
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10
Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2006
von
Du, X.
|
Tang, W.
|
Tian, W.
| +3
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1
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Sprache: Chinesisch
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Zeitschrift: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Medienart
10
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9
E-Artikel
9
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Zeitschriftentitel
Zhonghua yi xue yi chuan xue za zhi = Zhonghua ...
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10
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4
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3
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1
17298-37-2
1
CLCN4 protein, human
1
COL4A4 protein, human
1
Cell Cycle Proteins
1
Chloride Channels
1
Codon, Nonsense
1
Collagen Type IV
1
DNA, Mitochondrial
1
EC 1.-
1
EC 1.14.16.2
1
EC 1.17.4.-
1
IRF6 protein, human
1
Interferon Regulatory Factors
1
MMACHC protein, human
1
Methyl-CpG-Binding Protein 2
1
Oxidoreductases
1
RRM2B protein, human
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Erscheinungszeitraum
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2020-
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2010-2019
1
2000-2009
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