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Prenatal diagnosis of 287 fetuses with a family history of methylmalonic aciduria.

NIAID Data Ecosystem2026-03-13 收录

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https://figshare.com/articles/dataset/Prenatal_diagnosis_of_287_fetuses_with_a_family_history_of_methylmalonic_aciduria_/19488346 数据链接链接失效反馈

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Prenatal diagnosis of 287 fetuses with a family history of methylmalonic aciduria.

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创建时间：

2022-03-31

遗传病产前诊断

基因突变分析

Branchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder characterized by branchial arch anomalies, hearing loss and kidney defects. Mutations in the human EYA1 gene have been reported asso

NIAID Data Ecosystem70

Additional file 2 of Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting

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骨骼研究

Additional file 2: Supplementary Table S2. Top 10 candidate mutations as revealed by WES.

Figshare2024-08-16 更新50

Data_Sheet_1_Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE.docx

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基因突变功能

X-Linked recessive chondrodysplasia punctata (CDPX1) is a rare skeletal dysplasia characterized by stippled epiphyses, brachytelephalangy, and nasomaxillary hypoplasia. CDPX1 is caused by function los

NIAID Data Ecosystem40

Additional file 2 of Prenatal diagnosis of rare genetic disorders: fourteen years’ experience of a tertiary genetic centre from India

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病例分布

Additional file 2: State-wise distribution of total cases in the present study based on their referral clinic

DataCite Commons2025-09-03 更新60

Noninvasive Prenatal Diagnosis of SEA-Thalassemia by Combining 1000 Genomes Database and Relative Haplotype Dosage

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单倍型剂量分析

To explore a noninvasive method for diagnosis of SEA-thalassemia and to investigate whether the regional factors affect the accuracy of this method. The method involved using a public database and bio

Figshare2024-04-18 更新50

Prenatal diagnosis of 287 fetuses with a family history of methylmalonic aciduria.

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