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A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)
Published 2016-08-01Subjects: Get full text
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Unveiling a rare genetic aberration: A case study of Prader-Willi syndrome (PWS) with atypical 15q11.2-q13.3 deletion
Published 2025-05-01Subjects: Get full text
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Current Genetic Testing Tools in Neonatal Medicine
Published 2017-04-01Subjects: “…chromosomal microarray analysis…”
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The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations
Published 2020-10-01Subjects: “…chromosomal microarray analysis…”
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Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward
Published 2025-06-01Subjects: Get full text
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Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing
Published 2025-07-01Subjects: “…Chromosomal microarray analysis…”
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Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses
Published 2025-04-01Subjects: Get full text
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The assessing of clinical relevance of chromosomal microarray analysis in the prenatal diagnosis of fetal growth restriction
Published 2025-02-01Subjects: Get full text
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A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications
Published 2025-08-01Subjects: “…chromosomal microarray analysis…”
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Genetic etiology and pregnancy outcomes of fetal hyperechoic kidneys: a retrospective analysis
Published 2025-08-01Subjects: Get full text
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Xq12q13.2 duplication detected in a child in selective exome screening
Published 2024-09-01Subjects: Get full text
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Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis
Published 2024-12-01Subjects: Get full text
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Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements
Published 2025-05-01Subjects: Get full text
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Prenatal diagnosis and molecular cytogenetic characterization of 12 cases of chromosome 8 inverted duplication deletion syndrome
Published 2025-08-01Subjects: Get full text
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Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications
Published 2025-05-01Subjects: “…chromosomal microarray analysis…”
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Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing
Published 2025-07-01Subjects: Get full text
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Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection
Published 2025-01-01Subjects: “…chromosome microarray analysis…”
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