A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia

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dc.contributor.author Hengel, Holger
dc.contributor.author Schöls, Ludger
dc.date.accessioned 2020-04-22T06:49:42Z
dc.date.available 2020-04-22T06:49:42Z
dc.date.issued 2019
dc.identifier.issn 1552-4833
dc.identifier.uri http://hdl.handle.net/10900/99759
dc.language.iso en de_DE
dc.publisher Wiley de_DE
dc.relation.uri http://dx.doi.org/10.1002/ajmg.a.61168 de_DE
dc.subject.ddc 570 de_DE
dc.subject.ddc 610 de_DE
dc.title A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia de_DE
dc.type Artikel de_DE
utue.quellen.id 20190926111821_00868
utue.publikation.seiten 1338-1345 de_DE
utue.personen.roh Sharkia, Rajech
utue.personen.roh Zalan, Abdelnaser
utue.personen.roh Jabareen-Masri, Azhar
utue.personen.roh Hengel, Holger
utue.personen.roh Schoels, Ludger
utue.personen.roh Kessel, Amit
utue.personen.roh Azem, Abdussalam
utue.personen.roh Mahajnah, Muhammad
dcterms.isPartOf.ZSTitelID American Journal of Medical Genetics Part A de_DE
dcterms.isPartOf.ZS-Issue 7 de_DE
dcterms.isPartOf.ZS-Volume 179 de_DE
utue.fakultaet 04 Medizinische Fakultät de_DE


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