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1
A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature
Published 2022-06-01Subjects: Get full text
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2
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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3
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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4
46,XY,9(p24)dup(2q35q37.3) with cryptorchidism: A case report and literature review
Published 2019-01-01Subjects: “…azoospermia factor; chromosome microarray analysis; cryptorchidism; karyotype; partial trisomy of chromosome…”
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5
Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review
Published 2021-11-01Subjects: Get full text
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6
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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7
Clinical value of genetic analysis in prenatal diagnosis of short femur
Published 2019-11-01Subjects: “…chromosome microarray analysis…”
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8
A feasible diagnostic approach for the translocation carrier from the indication of products of conception
Published 2018-01-01Subjects: “…Chromosome microarray analysis…”
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10
Prenatal chromosomal microarray analysis in foetuses with isolated absent or hypoplastic nasal bone
Published 2022-12-01Subjects: Get full text
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11
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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12
Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency
Published 2019-02-01Subjects: Get full text
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13
Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome
Published 2022-03-01Subjects: Get full text
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15
Application of chromosome microarray analysis and karyotyping in diagnostic assessment of abnormal Down syndrome screening results
Published 2022-11-01Subjects: “…Chromosome microarray analysis…”
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16
Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies
Published 2014-12-01Subjects: Get full text
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17
Paternal Low-Level Mosaicism-Caused SATB2-Associated Syndrome
Published 2019-07-01Subjects: Get full text
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18
A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions
Published 2022-08-01Subjects: Get full text
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19
Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?
Published 2024-05-01Subjects: Get full text
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20
Novel prenatally diagnosed compound heterozygous PXDN variants in fetal congenital primary aphakia and blepharophimosis
Published 2022-05-01Subjects: Get full text
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