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Academic Journal

[Efficiency of CNV-seq in detecting fetal DMD gene deletion or duplication in prenatal diagnosis].

  • Authors : Qiu X; Department of Medical Genetics, NHC Key Laboratory of Health Birth and Birth Defect Prevention in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, Affiliated Hospital of Kunming University of Science and Technology, the First People's Hospital of Yunnan Province, Kunming 650032, China.; Guo JJ

Subjects: DNA Copy Number Variations* ; Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/diagnosis ; Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/genetics

  • Source: Zhonghua fu chan ke za zhi [Zhonghua Fu Chan Ke Za Zhi] 2024 Apr 25; Vol. 59 (4), pp. 279-287.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 16210370R Publication Model: Print Cited Medium:

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Academic Journal

[Prenatal diagnosis of fetal microdeletion and microduplication syndromes among pregnant women with advanced maternal ages].

  • Authors : Duan F; Prenatal Diagnosis Center, Xiamen University Affiliated Women and Children's Hospital, Xiamen, Fujian 361000, China. .; Wu Q

Subjects: Pregnant Women* ; DNA Copy Number Variations*; Child

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Apr Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Analysis of X chromosome inactivation and prenatal diagnosis for a Chinese pedigree with loss of heterozygosity at Xq22.1q22.3].

  • Authors : Chen X; Reproductive Center of Taizhou Hospital, Taizhou, Zhejiang 317000, China. .; Zhang W

Subjects: X Chromosome Inactivation* ; DNA Copy Number Variations*; Female

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Mar Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Clinical features and genetic analysis of three children with β-ketothiolase deficiency].

  • Authors : Wu X; Department of Endocrinology and Inborn Error of Genetic Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, China. .; Li Y

Subjects: DNA Copy Number Variations* ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/genetics; Acetyl-CoA C-Acyltransferase/Acetyl-CoA C-Acyltransferase/Acetyl-CoA C-Acyltransferase/*deficiencyBeta ketothiolase deficiency

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Mar Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Genetic analysis of a case with Al Kaissi syndrome and a literature review].

  • Authors : Sun G; Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology,the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .; Zhao G

Subjects: DNA Copy Number Variations* ; Prenatal Diagnosis*; Child

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Feb Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Clinical and genetic analysis of ten Chinese pedigrees affected with 7q11.23 duplication syndrome].

  • Authors : Shi P; Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .; Liu Y

Subjects: DNA Copy Number Variations* ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics; Pregnancy

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Feb Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Prenatal diagnosis and outcome of pregnancy for women with high risks by screening of fetal free DNA from peripheral blood samples].

  • Authors : Li Z; Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School Nanjing University, Nanjing, Jiangsu 210008, China. .; Duan H

Subjects: DNA Copy Number Variations* ; Down Syndrome*/Down Syndrome*/Down Syndrome*/genetics; Female

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Jan Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[An evaluation of carrier detection for Spinal muscular atrophy using digital PCR assay].

  • Authors : Yan Y; Prenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing 100026, China. ; .

Subjects: DNA Copy Number Variations* ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/diagnosis ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Jan Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Research progress of mass-spectrometric technique in nucleic acid detection and analysis].

  • Authors : Zhao X; National Key Laboratory of Intelligent Tracking and Forecasting for Infectious Diseases, National Institute for Communicable Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing 102206, China.; Xiao D

Subjects: DNA Copy Number Variations* ; Nucleic Acids*; Humans

  • Source: Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] [Zhonghua Yu Fang Yi Xue Za Zhi] 2024 Jan 06; Vol. 58 (1), pp. 98-106.Publisher: Zhonghua yi xue hui Country of Publication: China NLM ID: 7904962 Publication Model: Print Cited Medium: Print ISSN: 0253-9624 (Print)

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Academic Journal

[Prenatal diagnosis and genetic analysis of three fetuses with duodenal atresia or stenosis].

  • Authors : Chen N; Women's Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China. .; Zeng W

Subjects: DNA Copy Number Variations* ; Prenatal Diagnosis*; Pregnancy Familial duodenal atresia

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Dec Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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  • 1-10 of  390 results for ""DNA copy number variations""