about
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communitiesExtraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing dataHmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictorMToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencingA comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs.A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interestMSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial DiseaseNumtS colonization in mammalian genomes.Elucidating the editome: bioinformatics approaches for RNA editing detection.MSeqDR: Making genomics accessible to the mitochondrial disease communityA multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot studyInvestigating Human Mitochondrial Genomes in Single Cells
P50
Q27008228-DE6EA573-B6E6-4559-AF39-60CE248FA5C9Q30839671-D8090128-ADF6-4D1C-A191-036FB994F785Q31145454-8D133223-225D-4BDB-8948-2589A11091AEQ34360161-C6671143-F1D8-49F7-82C4-3EBE00AD295DQ36276480-68887739-1699-4E10-ABE3-5565280AEA7FQ36422135-56535659-83BB-4A08-8383-947B5C037FA3Q36840213-64FD6288-A7F4-4A83-B8D3-F5734881214CQ46253197-A1B7F264-0FB4-46EA-92B0-6D05FD6EF3A9Q47777124-120048F2-F711-4533-AEA1-BFE1B3CBE35DQ60297048-EBA9CF86-D6AA-466D-9781-1239DC6DA1D3Q93346258-30913B55-9FC9-4F57-9510-AFC09F00C8A5Q94665097-8DF7D02F-903B-4CE5-8FF9-AA3AFA348D33
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Maria Angela Diroma
@ast
Maria Angela Diroma
@en
Maria Angela Diroma
@es
Maria Angela Diroma
@nl
type
label
Maria Angela Diroma
@ast
Maria Angela Diroma
@en
Maria Angela Diroma
@es
Maria Angela Diroma
@nl
prefLabel
Maria Angela Diroma
@ast
Maria Angela Diroma
@en
Maria Angela Diroma
@es
Maria Angela Diroma
@nl
P1053
X-7677-2018
P106
P1153
56422477100
P21
P31
P496
0000-0003-1427-8946