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PUBMED FOR HANDHELDS

Journal Abstract Search


131 related items for PubMed ID: 21851494

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  • 4. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
    Rainger J, Bengani H, Campbell L, Anderson E, Sokhi K, Lam W, Riess A, Ansari M, Smithson S, Lees M, Mercer C, McKenzie K, Lengfeld T, Gener Querol B, Branney P, McKay S, Morrison H, Medina B, Robertson M, Kohlhase J, Gordon C, Kirk J, Wieczorek D, Fitzpatrick DR.
    Hum Mol Genet; 2012 Sep 15; 21(18):3969-83. PubMed ID: 22692683
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  • 6. Finding disease variants in Mendelian disorders by using sequence data: methods and applications.
    Ionita-Laza I, Makarov V, Yoon S, Raby B, Buxbaum J, Nicolae DL, Lin X.
    Am J Hum Genet; 2011 Dec 09; 89(6):701-12. PubMed ID: 22137099
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  • 8. Familial postaxial acrofacial dysostosis syndrome.
    Giannotti A, Digilio MC, Virgili Q, Obregon MG, Guadagni AM, Ventura T, Dallapiccola B.
    J Med Genet; 1992 Oct 09; 29(10):752. PubMed ID: 1433242
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  • 9. Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome.
    Green B, Nikkhah D, Cobb AR, Dunaway DJ.
    J Plast Reconstr Aesthet Surg; 2013 Aug 09; 66(8):e234-5. PubMed ID: 23664577
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  • 11. Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
    Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ.
    Science; 2010 Apr 30; 328(5978):636-9. PubMed ID: 20220176
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  • 12. Human genetics: Genomes on prescription.
    Maher B.
    Nature; 2011 Oct 05; 478(7367):22-4. PubMed ID: 21979025
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  • 14. Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?
    Zhang Y, Dai Y, Liu Y, Ren J.
    Clin Genet; 2010 Dec 05; 78(6):570-4. PubMed ID: 20412112
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  • 15. Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
    Twigg SR, Ousager LB, Miller KA, Zhou Y, Elalaoui SC, Sefiani A, Bak GS, Hove H, Hansen LK, Fagerberg CR, Tajir M, Wilkie AO.
    Clin Genet; 2016 Sep 05; 90(3):270-5. PubMed ID: 26706854
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  • 17. [Nager syndrome].
    Opitz C, Shetty DK, Witkowski R.
    Mund Kiefer Gesichtschir; 1998 May 05; 2(3):122-6. PubMed ID: 9658800
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  • 18. [Hanhart syndrome (aglossia-adactylia syndrome). Report of 2 cases].
    Cañete Estrada R, Gil Rivas R, Alvarez Marcos R, Burón Romero A, Romanos Lezcano A.
    An Esp Pediatr; 1990 Nov 05; 33(5):465-8. PubMed ID: 2096762
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  • 20. Exome sequencing makes medical genomics a reality.
    Biesecker LG.
    Nat Genet; 2010 Jan 05; 42(1):13-4. PubMed ID: 20037612
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