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Prenatal diagnosis of a fetus with 1p36 deletion syndrome and 3p26.3p25.2 duplication

Zhonghua yi xue yi chuan xue za zhi, 2024-05, Vol.41 (5), p.617

2024

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Prenatal diagnosis of a fetus with 15q11q13 complex duplication syndrome and a literature review

Zhonghua yi xue yi chuan xue za zhi, 2024-10, Vol.41 (10), p.1264

2024

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A case of 1q21.3q44 duplication and Xp22.33p11.3 deletion

Zhonghua er ke za zhi, 2023-04, Vol.61 (4), p.363

2023

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Myelodysplastic syndrome with chromosome 5q deletion and philadelphia chromosome: case report and literatures review

Zhōnghuá xuèyèxué zázhì, 2020-11, Vol.41 (11), p.940

2020

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A rare case of dicentric ring chromosome and derivative ring chromosome Chimera

Zhonghua yi xue yi chuan xue za zhi, 2022-05, Vol.39 (5), p.534

2022

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Comparison of detection rates of chromosome G-banding karyotype analysis and fluorescence in situ hybridization among children with sex chromosome mosaicisms

Zhonghua yi xue yi chuan xue za zhi, 2023-01, Vol.40 (1), p.12

2023

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Application of optical genome mapping technology for the detection of chromosomal structural variations

Zhonghua yi xue yi chuan xue za zhi, 2024-03, Vol.41 (3), p.257

2024

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Optical genome mapping analysis of a Chinese pedigree with a rare chromosome 17 paracentric inversion insertion

Zhonghua yi xue yi chuan xue za zhi, 2023-06, Vol.40 (6), p.727

2023

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Expert consensus on the clinical application of efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system

Zhonghua yi xue yi chuan xue za zhi, 2024-09, Vol.41 (9), p.1025

2024

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The value of chromosomal microarray analysis and fluorescence in situ hybridization for the prenatal diagnosis of chromosomal mosaicisms

Zhonghua yi xue yi chuan xue za zhi, 2023-05, Vol.40 (5), p.527

2023

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Frequency and characteristics of Y chromosome microdeletions and karyotypic abnormalities among 4 278 infertile male patients from southwest China

Zhonghua yi xue yi chuan xue za zhi, 2024-05, Vol.41 (5), p.513

2024

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550例男性不育症患者染色体核型和Y染色体微缺失情况分析

解放军医学杂志, 2021, Vol.46 (11), p.1123-1128

2021

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The value of combined CNV-Seq and chromosomal karyotyping for the detection of amniocytic mosaicisms and a literature review

Zhonghua yi xue yi chuan xue za zhi, 2023-08, Vol.40 (8), p.954

2023

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Genetic analysis of a child with mos 46,X,psu idic(X)(q21.3)[40/45,X[3

Zhonghua yi xue yi chuan xue za zhi, 2024-08, Vol.41 (8), p.977

2024

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Analysis of genetic etiology in a patient with 1p36 deletion syndrome in conjunct with Snijders Blok-Campeau syndrome

Zhonghua yi xue yi chuan xue za zhi, 2024-03, Vol.41 (3), p.363

2024

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Advance of research on Phelan-McDermid syndrome

Zhonghua yi xue yi chuan xue za zhi, 2021-09, Vol.38 (9), p.917

2021

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Prenatal genetic analysis of three fetuses with abnormalities of chromosome 22

Zhonghua yi xue yi chuan xue za zhi, 2020-04, Vol.37 (4), p.405

2020

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Genetic analysis of a child with 18q terminal deletion and aortic regurgitation and a literature review

Zhonghua yi xue yi chuan xue za zhi, 2024-10, Vol.41 (10), p.1259

2024

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Clinical phenotype and genetic analysis of a rare case with 6p duplication and terminal deletion syndrome

Zhonghua yi xue yi chuan xue za zhi, 2024-09, Vol.41 (9), p.1117

2024

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Clinical features and genetic analysis of four children with Phelan-McDermid syndrome

Zhonghua yi xue yi chuan xue za zhi, 2024-09, Vol.41 (9), p.1059

2024

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Application of CNV-seq and chromosomal karyotyping in the prenatal diagnosis for carriers of balanced translocations

Zhonghua yi xue yi chuan xue za zhi, 2022-04, Vol.39 (4), p.366

2022

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Clinical and genetic analysis of a child with chromosomal 13q32.1-q33.3 deletion

Zhonghua yi xue yi chuan xue za zhi, 2019-12, Vol.36 (12), p.1213

2019

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Amerika, Land der Unbegrenzten Gendiagnostischen Möglichkeiten?: Die U. S. -Amerikanische Rechtslage Zur Anwendung der Gendiagnostik in der Humanmedizin

Henze, Claudia

1, 2016

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Prenatal diagnosis of a case with 46,XX,del(4),dup(21)

Zhonghua yi xue yi chuan xue za zhi, 2017-02, Vol.34 (1), p.50

2017

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Detection of cytogenetic abnormalities in multiple myeloma by using optical genome mapping

Zhōnghuá xuèyèxué zázhì, 2024-03, Vol.45 (3), p.303-307

2024

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Prenatal diagnosis of a fetus with 1p36 deletion syndrome and 3p26.3p25.2 duplication

Prenatal diagnosis of a fetus with 15q11q13 complex duplication syndrome and a literature review

A case of 1q21.3q44 duplication and Xp22.33p11.3 deletion

Myelodysplastic syndrome with chromosome 5q deletion and philadelphia chromosome: case report and literatures review

A rare case of dicentric ring chromosome and derivative ring chromosome Chimera

Comparison of detection rates of chromosome G-banding karyotype analysis and fluorescence in situ hybridization among children with sex chromosome mosaicisms

Application of optical genome mapping technology for the detection of chromosomal structural variations

Optical genome mapping analysis of a Chinese pedigree with a rare chromosome 17 paracentric inversion insertion

Expert consensus on the clinical application of efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system

The value of chromosomal microarray analysis and fluorescence in situ hybridization for the prenatal diagnosis of chromosomal mosaicisms

Frequency and characteristics of Y chromosome microdeletions and karyotypic abnormalities among 4 278 infertile male patients from southwest China

550例男性不育症患者染色体核型和Y染色体微缺失情况分析

The value of combined CNV-Seq and chromosomal karyotyping for the detection of amniocytic mosaicisms and a literature review

Genetic analysis of a child with mos 46,X,psu idic(X)(q21.3)[40/45,X[3

Analysis of genetic etiology in a patient with 1p36 deletion syndrome in conjunct with Snijders Blok-Campeau syndrome

Advance of research on Phelan-McDermid syndrome

Prenatal genetic analysis of three fetuses with abnormalities of chromosome 22

Genetic analysis of a child with 18q terminal deletion and aortic regurgitation and a literature review

Clinical phenotype and genetic analysis of a rare case with 6p duplication and terminal deletion syndrome

Clinical features and genetic analysis of four children with Phelan-McDermid syndrome

Application of CNV-seq and chromosomal karyotyping in the prenatal diagnosis for carriers of balanced translocations

Clinical and genetic analysis of a child with chromosomal 13q32.1-q33.3 deletion

Amerika, Land der Unbegrenzten Gendiagnostischen Möglichkeiten?: Die U. S. -Amerikanische Rechtslage Zur Anwendung der Gendiagnostik in der Humanmedizin

Prenatal diagnosis of a case with 46,XX,del(4),dup(21)

Detection of cytogenetic abnormalities in multiple myeloma by using optical genome mapping

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