A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome (vol 100, pg 486, 2021)

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dc.contributor.authorKaygusuz, Emrah
dc.contributor.authorKhayyat, Arwa Ishaq A.
dc.contributor.authorAbdullah, Uzma
dc.contributor.authorBudde, Birgit Susanne
dc.contributor.authorAsif, Maria
dc.contributor.authorAhmed, Ilyas
dc.contributor.authorMakhdoom, Ehtisham Ul Haq
dc.date.accessioned2025-05-20T18:56:16Z
dc.date.issued2022
dc.departmentBilecik Şeyh Edebali Üniversitesi
dc.description.abstract[No abstract available]
dc.identifier.doi10.1111/cge.14092
dc.identifier.endpage272
dc.identifier.issn0009-9163
dc.identifier.issn1399-0004
dc.identifier.issue2
dc.identifier.scopusqualityQ2
dc.identifier.startpage272
dc.identifier.urihttps://doi.org/10.1111/cge.14092
dc.identifier.urihttps://hdl.handle.net/11552/7659
dc.identifier.volume101
dc.identifier.wosWOS:000738588500017
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWoS
dc.indekslendigikaynakWoS - Science Citation Index Expanded
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofClinical Genetics
dc.relation.publicationcategoryDiğer
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20250518
dc.titleA 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome (vol 100, pg 486, 2021)
dc.typeCorrection

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