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Journal Abstract Search

165 related items for PubMed ID: 28631888

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  • 3. Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.
    Nasser F, Kurtenbach A, Biskup S, Weidensee S, Kohl S, Zrenner E.
    Acta Ophthalmol; 2020 May; 98(3):e316-e321. PubMed ID: 31580008
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  • 7. A canine model of Cohen syndrome: Trapped Neutrophil Syndrome.
    Shearman JR, Wilton AN.
    BMC Genomics; 2011 May 23; 12():258. PubMed ID: 21605373
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  • 10. Cohen syndrome diagnosis using whole genome arrays.
    Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M.
    J Med Genet; 2011 Feb 23; 48(2):136-40. PubMed ID: 20921020
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  • 11. A novel VPS13B mutation in Cohen syndrome: a case report and review of literature.
    Momtazmanesh S, Rayzan E, Shahkarami S, Rohlfs M, Klein C, Rezaei N.
    BMC Med Genet; 2020 Jun 30; 21(1):140. PubMed ID: 32605629
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  • 14. Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
    Rafiq MA, Leblond CS, Saqib MA, Vincent AK, Ambalavanan A, Khan FS, Ayaz M, Shaheen N, Spiegelman D, Ali G, Amin-ud-Din M, Laurent S, Mahmood H, Christian M, Ali N, Fennell A, Nanjiani Z, Egger G, Caron C, Waqas A, Ayub M, Rasheed S, Forgeot d'Arc B, Johnson A, So J, Brohi MQ, Mottron L, Ansar M, Vincent JB, Xiong L.
    BMC Med Genet; 2015 Jun 25; 16():41. PubMed ID: 26104215
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  • 15. Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.
    Hashmi JA, Fadhli F, Almatrafi A, Afzal S, Ramzan K, Thiele H, Nürnberg P, Basit S.
    Brain Dev; 2020 Sep 25; 42(8):587-593. PubMed ID: 32402540
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  • 19. Whole Exome Sequencing Identifies a Novel Homozygous Duplication Mutation in the VPS13B Gene in an Indian Family with Cohen Syndrome.
    Kaushik P, Mahajan N, Girimaji SC, Kumar A.
    J Mol Neurosci; 2020 Aug 25; 70(8):1225-1228. PubMed ID: 32170714
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