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Publication
PropertyValue
Working Groups RG Wollnik
SubprojectNone
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 36943452
DOIDOI 10.1007/s00439-023-02528-2
Publication Year2023
TitleHomozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
JournalHuman Genetics
ISSN0340-6717
eISSN1432-1203
URL http://dx.doi.org/10.1007/s00439-023-02528-2
Pages543-552
Issue4
Volume142
Journal AbbreviationHum Genet
AuthorsSchnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G
First AuthorSchnabel F
Last AuthorYigit G

 External Resources

 gro-2/124396  GRO.publications identifier

 core.ac....17.pdf  Article fulltext

 0000-0002-9966-8937  ORCID identifier (Franziska Schnabel)

 0000-0002-1404-8887  ORCID identifier (Almundher Al-Maawali)

 0000-0002-7890-4590  ORCID identifier (Ankur Chaurasia)

 0000-0003-2543-4844  ORCID identifier (Steffen Syrbe)

 0000-0001-5284-8909  ORCID identifier (Gandham SriLakshmi Bhavani)

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

 0000-0002-8527-2210  ORCID identifier (Siddharth Banka)

 0000-0002-0139-8239  ORCID identifier (Katta M. Girisha)

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

 0000-0003-2777-0198  ORCID identifier (Gökhan Yigit)

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

 028hv5492  ROR identifier (028hv5492, University Hospital Leipzig)

 013czdx64  ROR identifier (013czdx64, University Hospital Heidelberg)

 04wq8zb47  ROR identifier (04wq8zb47, Sultan Qaboos University)

 049xx5c95  ROR identifier (049xx5c95, Sultan Qaboos University Hospital)

 05hg48t65  ROR identifier (05hg48t65, Kasturba Medical College, Manipal)

 027m9bs27  ROR identifier (027m9bs27, University of Manchester)

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

 0493xsw21  ROR identifier (0493xsw21, Berlin Institute of Health at Charité - Universitätsmedizin Berlin)

 04p5ggc03  ROR identifier (04p5ggc03, Max Delbrück Center for Molecular Medicine)

 00he80998  ROR identifier (00he80998, Manchester University NHS Foundation Trust)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

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

 SCR_022192  SciCrunch identifier (SCR_022192, BWA-MEM2)

 SCR_013036  SciCrunch identifier (SCR_013036, cn.mops)

 SCR_011793  SciCrunch identifier (SCR_011793, Integrative Genomics Viewer IGV)

 SCR_023455  SciCrunch identifier (SCR_023455, Applied Biosystems StepOne Real Time PCR System)

 SCR_014281  SciCrunch identifier (SCR_014281, StepOne Software)

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