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Journal Abstract Search

176 related items for PubMed ID: 25942099

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  • 6. The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.
    Tan CA, Topper S, Ward Melver C, Stein J, Reeder A, Arndt K, Das S.
    Brain Dev; 2014 Apr; 36(4):351-5. PubMed ID: 23726037
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  • 8. Congenital microcephaly-linked CDK5RAP2 affects eye development.
    Zaqout S, Ravindran E, Stoltenburg-Didinger G, Kaindl AM.
    Ann Hum Genet; 2020 Jan; 84(1):87-91. PubMed ID: 31355417
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  • 11. Autosomal recessive primary microcephalies (MCPH).
    Kaindl AM.
    Eur J Paediatr Neurol; 2014 Jul; 18(4):547-8. PubMed ID: 24780602
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  • 15. Proteome changes in autosomal recessive primary microcephaly.
    Zaqout S, Mannaa A, Klein O, Krajewski A, Klose J, Luise-Becker L, Elsabagh A, Ferih K, Kraemer N, Ravindran E, Makridis K, Kaindl AM.
    Ann Hum Genet; 2023 Mar; 87(1-2):50-62. PubMed ID: 36448252
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  • 16. Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.
    Mahmood S, Ahmad W, Hassan MJ.
    Orphanet J Rare Dis; 2011 Jun 13; 6():39. PubMed ID: 21668957
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  • 17. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.
    Woods CG, Bond J, Enard W.
    Am J Hum Genet; 2005 May 13; 76(5):717-28. PubMed ID: 15806441
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  • 18. CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
    Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S.
    J Med Genet; 2020 Jun 13; 57(6):389-399. PubMed ID: 32015000
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  • 19. Molecular genetics of human primary microcephaly: an overview.
    Faheem M, Naseer MI, Rasool M, Chaudhary AG, Kumosani TA, Ilyas AM, Pushparaj P, Ahmed F, Algahtani HA, Al-Qahtani MH, Saleh Jamal H.
    BMC Med Genomics; 2015 Jun 13; 8 Suppl 1(Suppl 1):S4. PubMed ID: 25951892
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