Genetic variants reported as benign in MITOMAP detected in 100 patients tested.

NIAID Data Ecosystem2026-03-14 收录

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https://figshare.com/articles/dataset/Genetic_variants_reported_as_benign_in_MITOMAP_detected_in_100_patients_tested_/22155855 数据链接链接失效反馈

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Genetic variants reported as benign in MITOMAP detected in 100 patients tested.

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2023-02-24

Application of Array CGH technique for the clinical diagnosis of developmental delay and congenital malformations in Saudi Arabia [244k]. Application of Array CGH technique for the clinical diagnosis of developmental delay and congenital malformations in Saudi Arabia [244k]

基因组诊断

临床遗传学

Chromosomal imbalances are implicated in the etiology of developmental delay (DD) and congenital malformation (CM). We therefore conducted high resolution array comparative genomic hybridization (arra

NIAID Data Ecosystem40

Detailed information for all individuals with CNV deletions in YBX1 or YBX3 included in Fig 4 and accompanying DECIPHER phenotypic data.

临床遗传学

基因型-表型关联

Detailed information for all individuals with CNV deletions in YBX1 or YBX3 included in Fig 4 and accompanying DECIPHER phenotypic data.

NIAID Data Ecosystem20

Mitogenome analysis of Risso's dolphin. Grampus griseus

海洋宏基因组学

细胞器DNA变异分析

The dolphin genomes are important in various aspects. The mitochondrial DNA of an animal is important for genomics, and comparative genomics analysis. Therefore, the mitogenome of Risso's dolphin has

NIAID Data Ecosystem10

Supplementary Material for: Cytogenetic and Array-CGH Characterization of a Complex de novo Rearrangement Involving Duplication and Deletion of 9p and Clinical Findings in a 4-Month-Old Female

染色体异常

临床遗传学

Approximately 15 patients with partial trisomy 9p involving de novo duplications have been previously described. Here, we present clinical, cytogenetic, FISH and aCGH findings in a patient with a de n

DataCite Commons2020-09-02 更新30

Increased contribution of non-reference alleles in mitochondrial DNA (mtDNA) of Alzheimer's disease (AD) patients

阿尔茨海默病遗传学

细胞器DNA变异分析

Many observations suggest that mutations of mtDNA could be responsible of the neurodegenerative changes associated with AD. We examined the signal intensity of the four alleles for each mtDNA nucleoti

NIAID Data Ecosystem20

Genetic variants reported as benign in MITOMAP detected in 100 patients tested.

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