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Prenatal diagnosis of Pallister-Killian syndrome
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创建时间：
2024-06-02
相关数据集
Detailed information of samples with inconsistent NIPT-FCAPS results to karyotyping/microarray results.
Detailed information of samples with inconsistent NIPT-FCAPS results to karyotyping/microarray results.
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Overview of the clinical aspects of the fetuses with CNVs of unclear clinical significance.
AF: amniotic fluid; CM: cisterna magna; CV: chorionic villi; DS: Down syndrome screening; FU: follow up; Gest: Gestation; IUGR: intrauterine growth restriction; N: not DS +ve or not mentioned; NT: nuc
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A Spectrum of Clinical Severity of Recessive Titinopathies in Prenatal
A summary of the foetal-onset titinopathy cases implied that variants in TTN present with a series of signs and a spectrum of clinical severity
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Table3_Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.xlsx
Background: Prenatal diagnosis of fetal short long bones (SLBs) was reported to be associated with skeletal dysplasias, chromosomal abnormalities, and genetic syndromes. This study aims to identify th
NIAID Data Ecosystem30
Outcomes of Cases of Prenatally-Diagnosed Congenital Pulmonary Airway Malformation
Abstract Objective To evaluate the outcomes of cases of prenatally-diagnosed congenital pulmonary airway malformation (CPAM). Methods We retrospectively evaluated cases of prenatally-diagnosed CPAM be
Figshare2019-11-01 更新20
