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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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22
A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018
Published 2023-11-01Subjects: Get full text
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23
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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24
Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements
Published 2025-05-01Subjects: Get full text
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25
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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26
Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications
Published 2025-05-01Subjects: “…chromosomal microarray analysis…”
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27
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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30
HEREDITARY DISEASES AND SYNDROMES ACCOMPANIED BY FEBRILE CONVULSIONS: CLINICAL AND GENETIC CHARACTERISTICS AND DIAGNOSTIC PROCEDURES
Published 2016-08-01Subjects: Get full text
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31
Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review
Published 2025-01-01Subjects: Get full text
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32
The Genetics of 241 Fetuses With Talipes Equinovarus: A 8‐Year Monocentric Retrospective Study
Published 2025-02-01Subjects: “…chromosome microarray analysis…”
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33
Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case report
Published 2022-08-01Subjects: Get full text
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34
Application of Chromosome Microarray in Diagnosis of Amniotic Fluid in Older Pregnant Women
Published 2023-07-01Subjects: Get full text
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35
Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities
Published 2025-06-01Subjects: “…chromosome microarray analysis…”
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36
Genetic Evaluation of Early Pregnancy Loss by Chromosomal Microarray Analysis: A Retrospective Analysis
Published 2025-07-01Subjects: “…chromosome microarray analysis…”
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37
Ultrasound and genetic findings in a case series of fetuses presenting vertebral defects
Published 2025-08-01Subjects: Get full text
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38
Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death
Published 2013-06-01Subjects: “…chromosome microarray…”
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39
Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review
Published 2025-07-01Subjects: Get full text
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