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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 (15)
1
Genetic analysis of a fetus with mosaic trisomy 12 and severe heart defects and a literature review
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2023
von
Yin, T.
|
Wang, Z.
|
Tan, J.
| +4
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2
Prenatal diagnosis of fetuses with renal anomalies by whole genome sequencing
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2022
von
Qiao, F.
|
Hu, P.
|
Zhang, C.
| +4
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3
Prenatal diagnosis of two fetuses with chromosome 1p36 deletion syndrome
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2017
von
Ji, X.
|
Hu, H.
|
Wang, Y.
| +8
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4
Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2015
von
Pan, Q.
|
Hu, P.
|
Ou, J.
| +6
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5
Application of multiplex ligation-dependent probe amplification for rapid detection of aneuploidies and structural chromosomal abnormalities in prenatal diagnosis
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2014
von
Zhang, J.
|
Hu, P.
|
Luo, C.
| +5
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6
Array comparative genomic hybridization detection of a de novo 4q21.21-q22.1 deletion in a child with severe growth retardation
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2014
von
Zhou, J.
|
Hu, P.
|
Liu, A.
| +5
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7
Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2013
von
Meng, L.
|
Jiang, T.
|
Qin, L.
| +7
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8
Development and application of a method for molecular diagnosis of 21-hydroxylase deficiency
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2013
von
Ma, D.
|
Sun, Y.
|
Chen, Y.
| +9
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9
Prenatal diagnosis of two fetuses with de novo small supernumerary markers by single nucleotide polymorphism array based comparative genomic hybridization
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2012
von
Ji, X.
|
Li, L.
|
Lin, Y.
| +7
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10
Array-based comparative genomic hybridization detection of copy number variations in a fetus with hypoplastic left-heart syndrome
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2012
von
Wang, Y.
|
Ma, D.
|
Yang, Y.
| +7
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Zeitschrift: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Medienart
15
Aufsätze
15
E-Artikel
15
E-Ressourcen
Zeitschriftentitel
Zhonghua yi xue yi chuan xue za zhi = Zhonghua ...
Thema
15
Journal Article
12
English Abstract
7
Research Support, Non-U.S. Gov't
6
Case Reports
1
Argininosuccinate Synthase
1
CYP21A2 protein, human
1
EC 1.14.14.16
1
EC 2.1.3.3
1
EC 6.3.4.5
1
Ornithine Carbamoyltransferase
1
Review
1
Steroid 21-Hydroxylase
Alle anzeigen ...
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Erscheinungszeitraum
2
2020-
13
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
15
Chinesisch
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