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Publication
PropertyValue
Working Groups RG Lehnart, RG Wollnik
SubprojectRA1.1, RA1.2, RA2.1, RA2.2, RA3.1, RA3.2
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 34545459
DOIDOI 10.1007/s00439-021-02347-3
Publication Year2021
TitleBiallelic variants in YRDC cause a developmental disorder with progeroid features Wikidata
JournalHuman Genetics
ISSN0340-6717
eISSN1432-1203
URL http://dx.doi.org/10.1007/s00439-021-02347-3
Journal AbbreviationHum Genet
AuthorsSchmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B
First AuthorSchmidt J
Last AuthorWollnik B
ScholiaScholia Wikidata-based representation at Scholia

 External Resources

 link.spr...-3.pdf  Article fulltext

 gro-2/90122  GRO.publications identifier

 9606  NCBI taxonomy (human, Homo sapiens)

 0000-0002-5942-2924  ORCID identifier (Julia Schmidt)

 0000-0002-3382-4669  ORCID identifier (Tatiana Pochechueva)

 0000-0003-0794-5501  ORCID identifier (Niko Schwenzer)

 0000-0003-4372-1521  ORCID identifier (Janine Altmüller)

 0000-0002-0169-998X  ORCID identifier (Holger Thiele)

 0000-0002-7228-428X  ORCID identifier (Peter Nürnberg)

 0000-0002-3390-0051  ORCID identifier (Joerg Isensee)

 0000-0002-4147-9308  ORCID identifier (Tim Hucho)

 0000-0002-0154-0928  ORCID identifier (Mark Helm)

 0000-0003-2812-6492  ORCID identifier (Dagmar Wieczorek)

 0000-0002-8115-3513  ORCID identifier (Stephan Elmar Lehnart)

 0000-0003-2589-0364  ORCID identifier (Bernd Wollnik)

 406  Published Data Registry entry (CRC 1002)

 1/41  Research Data Archive (supplemental material)

 031t5w623  ROR identifier (031t5w623, German Centre for Cardiovascular Research)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 SCR_015040  SciCrunch identifier (RRID:SCR_015040, Agilent Masshunter Quantitative Analysis software)

 SCR_015058  SciCrunch identifier (RRID:SCR_015058, bcl2fastq)

 SCR_021693  SciCrunch identifier (RRID:SCR_021693, BioRad ChemiDoc Touch Imaging System)

 SCR_012919  SciCrunch identifier (RRID:SCR_012919, featureCounts)

 SCR_010777  SciCrunch identifier (RRID:SCR_010777, MutationTaster)

 SCR_013189  SciCrunch identifier (RRID:SCR_013189, PolyPhen)

 SCR_001905  SciCrunch identifier (RRID:SCR_001905, R Project for Statistical Computing)

 SCR_003485  SciCrunch identifier (RRID:SCR_003485, Reactome)

 SCR_012813  SciCrunch identifier (RRID:SCR_012813, SIFT)

 SCR_015899  SciCrunch identifier (RRID:SCR_015899, STAR)

 SCR_006786  SciCrunch identifier (RRID:SCR_006786, WebGestalt)

 static-c...M.docx  Supplemental material

 static-c...M.docx  Supplemental material

 static-c...ESM.ai  Supplemental material (figure)

 static-c...ESM.ai  Supplemental material (figure)

 static-c...ESM.ai  Supplemental material (figure)

 goeseek.gwdguser.de/studies/131  Supplemental material (goeseek study)

 static-c...M.xlsx  Supplemental material (table)

 static-c...M.xlsx  Supplemental material (table)

 mbexc.de...tures/  Website entry (mbexc.de)

 Q112714255  Wikidata ID