Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

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dc.contributor.author Rad, Aboulfazl
dc.contributor.author Loum, Stephen
dc.contributor.author Vona, Barbara
dc.date.accessioned 2023-01-16T08:38:15Z
dc.date.available 2023-01-16T08:38:15Z
dc.date.issued 2022
dc.identifier.issn 1750-1172
dc.identifier.uri http://hdl.handle.net/10900/135371
dc.language.iso en de_DE
dc.publisher Bmc de_DE
dc.relation.uri http://dx.doi.org/10.1186/s13023-022-02244-6 de_DE
dc.subject.ddc 570 de_DE
dc.subject.ddc 610 de_DE
dc.title Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome de_DE
dc.type Article de_DE
utue.quellen.id 20220728000000_01697
utue.personen.roh Rad, Aboulfazl
utue.personen.roh Najafi, Maryam
utue.personen.roh Suri, Fatemeh
utue.personen.roh Abedini, Soheila
utue.personen.roh Loum, Stephen
utue.personen.roh Karimiani, Ehsan Ghayoor
utue.personen.roh Daftarian, Narsis
utue.personen.roh Murphy, David
utue.personen.roh Doosti, Mohammad
utue.personen.roh Moghaddasi, Afrooz
utue.personen.roh Ahmadieh, Hamid
utue.personen.roh Sabbaghi, Hamideh
utue.personen.roh Rajati, Mohsen
utue.personen.roh Hashemi, Narges
utue.personen.roh Vona, Barbara
utue.personen.roh Schmidts, Miriam
dcterms.isPartOf.ZSTitelID Orphanet Journal of Rare Diseases de_DE
dcterms.isPartOf.ZS-Issue Article 97 de_DE
dcterms.isPartOf.ZS-Volume 17 (1) de_DE
utue.fakultaet 04 Medizinische Fakultät de_DE


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