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Publication
PropertyValue
Working Groups RG Wollnik
SubprojectRA1.1, RA1.2
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 32483341
DOIDOI 10.1038/s41431-020-0654-4
Publication Year2020
TitleA second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome Wikidata
JournalEuropean Journal of Human Genetics
ISSN1018-4813
eISSN1476-5438
URL http://dx.doi.org/10.1038/s41431-020-0654-4
Pages1422-1431
Issue10
Volume28
Journal AbbreviationEur J Hum Genet
AuthorsDrivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E
First AuthorDrivas TG
Last AuthorBhoj E
ScholiaScholia Wikidata-based representation at Scholia

 External Resources

 nature.c...-4.pdf  Article fulltext

 gro-2/84109  GRO.publications identifier

 9606  NCBI taxonomy (human, Homo sapiens)

 0000-0003-1231-1562  ORCID identifier (Tahsin Stefan Barakat)

 0000-0003-0658-1275  ORCID identifier (Patrick R. Blackburn)

 0000-0002-7515-8596  ORCID identifier (Kathrin Brockmann)

 0000-0002-1914-2434  ORCID identifier (Margit Burmeister)

 0000-0001-5509-9923  ORCID identifier (Gregory M. Cooper)

 0000-0002-4883-3023  ORCID identifier (Alejandro Ferrer)

 0000-0002-1347-4358  ORCID identifier (Zoe Powis)

 0000-0003-1993-8018  ORCID identifier (Francesca Clementina Radio)

 0000-0002-0705-1228  ORCID identifier (Kristen J. Rasmussen)

 0000-0002-5424-580X  ORCID identifier (Erica D. Smith)

 0000-0002-0119-5896  ORCID identifier (Thomas Smol)

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

 0000-0001-7297-9228  ORCID identifier (Huifang Yan)

 0000-0001-9713-7107  ORCID identifier (Philippe M. Campeau)

 100710  OMIM identifier (100710, CHRNB1)

 604041  OMIM identifier (604041, MPDU1)

 191170  OMIM identifier (191170, TP53)

 612661  OMIM identifier (612661, WRAP53)

 02ppyfa04  ROR identifier (02ppyfa04, Centre Hospitalier Universitaire de Lille)

 01z7r7q48  ROR identifier (01z7r7q48, Children's Hospital of Philadelphia)

 04zfmcq84  ROR identifier (04zfmcq84, Children's Mercy Hospital)

 057w15z03  ROR identifier (057w15z03, Erasmus University Rotterdam)

 04nz0wq19  ROR identifier (04nz0wq19, HudsonAlpha Institute for Biotechnology)

 05q6tgt32  ROR identifier (05q6tgt32, Kennedy Krieger Institute)

 02qp3tb03  ROR identifier (02qp3tb03, Mayo Clinic)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 03qryx823  ROR identifier (03qryx823, Technion – Israel Institute of Technology)

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

 01zgy1s35  ROR identifier (01zgy1s35, University Medical Center Hamburg-Eppendorf)

 008s83205  ROR identifier (008s83205, University of Alabama at Birmingham)

 04dkp9463  ROR identifier (04dkp9463, University of Amsterdam)

 00rcxh774  ROR identifier (00rcxh774, University of Cologne)

 02kzqn938  ROR identifier (02kzqn938, University of Lille)

 00jmfr291  ROR identifier (00jmfr291, University of Michigan–Ann Arbor)

 01w0d5g70  ROR identifier (01w0d5g70, University of Missouri–Kansas City)

 SCR_014601  SciCrunch identifier (RRID:SCR_014601, ggplot2)

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

 Q96127542  Wikidata ID