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Academic Journal

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease].

  • Authors : Tang Z; Department of Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .; Zheng C

Subjects: Genetic Testing* ; Polycystic Kidney, Autosomal Dominant*/Polycystic Kidney, Autosomal Dominant*/Polycystic Kidney, Autosomal Dominant*/genetics ; Polycystic Kidney, Autosomal Dominant*/Polycystic Kidney, Autosomal Dominant*/Polycystic Kidney, Autosomal Dominant*/diagnostic imaging

  • 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 Sep 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 of a fetus with Rubinstein-Taybi syndrome].

  • Authors : Peng J; Medical Genetics and Prenatal Diagnosis Department, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .; Yang B

Subjects: Rubinstein-Taybi Syndrome*/Rubinstein-Taybi Syndrome*/Rubinstein-Taybi Syndrome*/genetics ; CREB-Binding Protein*/CREB-Binding Protein*/CREB-Binding Protein*/genetics ; Prenatal Diagnosis*

  • 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 Aug 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

[Identification and prenatal diagnosis for a novel NIPBL variant in a fetus with Cornelia de Lange syndrome].

  • Authors : Zhao Y; Antenatal Diagnostic Center, Jinan Maternity and Child Health Care Hospital Affiliated to Shandong First Medical University (Jinan Maternity and Child Health Care Hospital), Jinan, Shandong 250001, China. .; Shan S

Subjects: De Lange Syndrome*/De Lange Syndrome*/De Lange Syndrome*/genetics ; Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/methods ; Cell Cycle Proteins*/Cell Cycle Proteins*/Cell Cycle Proteins*/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 Jul 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 two families with abnormal findings upon prenatal diagnosis].

  • Authors : Wang W; Tianjin Central Hospital of Obstetrics and Gynecology, Tianjin 300100, China. .; Ren C

Subjects: Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/methods ; Karyotyping* ; DNA Copy Number Variations*

  • 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 Jun 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 PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria].

  • Authors : Chai Y; Department of Medical Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Care Hospital, Luoyang, Henan 471000, China. .; Ning H

Subjects: Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/genetics ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/diagnosis ; Prenatal Diagnosis*

  • 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 Jun 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

[Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders].

Subjects: Prenatal Diagnosis* ; Uniparental Disomy*/Uniparental Disomy*/Uniparental Disomy*/genetics ; Uniparental Disomy*/Uniparental Disomy*/Uniparental Disomy*/diagnosis

  • 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 Jun 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 of a fetus with 1p36 deletion syndrome and 3p26.3p25.2 duplication].

  • Authors : Zhao J; Department of Gynaecology and Obstetrics, Linyi People's Hospital, Linyi, Shandong 2760033, China. .; Gao J

Subjects: Chromosomes, Human, Pair 1*/Chromosomes, Human, Pair 1*/Chromosomes, Human, Pair 1*/genetics ; Chromosome Deletion* ; Prenatal Diagnosis* Chromosome 1p36 Deletion Syndrome

  • 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 May 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

[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* ; Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/methods ; 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 and phenotypic analysis of two fetuses harboring heterozygous deletions of SHOX gene].

  • Authors : Gu L; Prenatal Diagnosis Center, Center of Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Nanjing University Medical School, Nanjing, Jiangsu 210008, China. .; Liu W

Subjects: Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/methods ; Chromosome Disorders*/Chromosome Disorders*/Chromosome Disorders*/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 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  2,167 results for ""PRENATAL diagnosis""