يعرض 1 - 3 نتائج من 3 نتيجة بحث عن '"Putnam, EA"', وقت الاستعلام: 0.31s تنقيح النتائج
  1. 1
    Academic Journal
    Ten novel FBN2 mutations in congenital contractual arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.

    المؤلفون: Gupta PA, Putnam EA, Carmical SG, Kaitila I, Steinmann B, Child A, Metcalfe K, Berry SA, Chen E, Delorme CV, Thong MK, Adès LC, Milewicz D.M., DANESINO, CESARE

    المساهمون: Gupta, Pa, Putnam, Ea, Carmical, Sg, Kaitila, I, Steinmann, B, Child, A, Danesino, Cesare, Metcalfe, K, Berry, Sa, Chen, E, Delorme, Cv, Thong, Mk, Adès, Lc, Milewicz, D. M.

    مصطلحات موضوعية: “medical genetics”, “molecular biology”, “inherited disorder”

    وصف الملف: STAMPA

    Relation: firstpage:19: 39; lastpage:48; journal:HUMAN MUTATION; http://hdl.handle.net/11571/11766

    الاتاحة: http://hdl.handle.net/11571/11766

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  2. 2
    Academic Journal
    Ten novel FBN2 mutations in congenital contractural arachnodactyly:Delineation of the molecular pathogenesis and clinical phenotype

    المؤلفون: Gupta, PA, Putnam, EA, Carmical, SG, Kaitila, No Value, Steinmann, B, Child, A, Danesino, C, Metcalfe, K, Berry, SA, Chen, E, Delorme, CV, Thong, MK, Ades, LC, Milewicz, DM

    المصدر: Gupta , PA , Putnam , EA , Carmical , SG , Kaitila , N V , Steinmann , B , Child , A , Danesino , C , Metcalfe , K , Berry , SA , Chen , E , Delorme , CV , Thong , MK , Ades , LC & Milewicz , DM 2002 , ' Ten novel FBN2 mutations in congenital contractural arachnodactyly : Delineation of the molecular pathogenesis and clinical phenotype ' , Human Mutation , vol. 19 , no. 1 , pp. 39-48 . ; ISSN:1059-7794

    مصطلحات موضوعية: congenital contractural arachnodactyly, CCA, clinical phenotype, fibrillin 2, FBN2, fibrillin 1, FBN1, Marfan syndrome, MFS, genotype-phenotype, EGF-LIKE DOMAINS, MARFAN-SYNDROME, FIBRILLIN-2, RESIDUES, FAMILY, EXONS, GENE, DISORDER, CALCIUM

    الاتاحة: http://hdl.handle.net/11370/ff9a0914-3dda-44dd-90b0-53187554ba7e
    https://research.rug.nl/en/publications/ten-novel-fbn2-mutations-in-congenital-contractural-arachnodactyly(ff9a0914-3dda-44dd-90b0-53187554ba7e).html

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  3. 3
    The metacarpophalangeal profile in a family with congenital contractural arachnodactily.

    المؤلفون: DANESINO, CESARE, Guala A, Milewicz Dm, Putnam Ea, Franceschini P.

    المساهمون: Danesino, Cesare, Guala, A, Milewicz, Dm, Putnam, Ea, Franceschini, P.

    مصطلحات موضوعية: "medical genetics", "molecular biology", "inherited disorder"

    وصف الملف: STAMPA

    Relation: ispartofbook:Genetic Counseling 11; firstpage:57; lastpage:58.; http://hdl.handle.net/11571/5822

    الاتاحة: http://hdl.handle.net/11571/5822

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