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Journal Abstract Search

446 related items for PubMed ID: 24830047

  • 1.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, McCray BA, Schindler A, Hoover-Fong JE, Sumner CJ.
    ; 1993. PubMed ID: 24830047
    [Abstract] [Full Text] [Related]

  • 2. Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.
    Ürel-Demir G, Şimşek-Kiper PÖ, Öncel İ, Utine GE, Haliloğlu G, Boduroğlu K.
    Eur J Paediatr Neurol; 2021 May; 32():46-55. PubMed ID: 33774370
    [Abstract] [Full Text] [Related]

  • 3.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Foley AR, Mohassel P, Donkervoort S, Bolduc V, Bönnemann CG.
    ; 1993 May. PubMed ID: 20301676
    [Abstract] [Full Text] [Related]

  • 4. TRPV4-associated skeletal dysplasias.
    Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S.
    Am J Med Genet C Semin Med Genet; 2012 Aug 15; 160C(3):190-204. PubMed ID: 22791502
    [Abstract] [Full Text] [Related]

  • 5.
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  • 6.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Steiner RD, Basel D.
    ; 1993 Aug 15. PubMed ID: 20301472
    [Abstract] [Full Text] [Related]

  • 7.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Loeys BL, Dietz HC.
    ; 1993 Aug 15. PubMed ID: 20301312
    [Abstract] [Full Text] [Related]

  • 8.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Clarke LA.
    ; 1993 Aug 15. PubMed ID: 20301341
    [Abstract] [Full Text] [Related]

  • 9. TRPV4-pathy, a novel channelopathy affecting diverse systems.
    Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S.
    J Hum Genet; 2010 Jul 15; 55(7):400-2. PubMed ID: 20505684
    [Abstract] [Full Text] [Related]

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  • 11.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mäkitie O, Vakkilainen S.
    ; 1993 Jul 15. PubMed ID: 22420014
    [Abstract] [Full Text] [Related]

  • 12.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Roberts AE.
    ; 1993 Jul 15. PubMed ID: 20301303
    [Abstract] [Full Text] [Related]

  • 13.
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  • 15.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Prior TW, Leach ME, Finanger EL.
    ; 1993 Jul 15. PubMed ID: 20301526
    [Abstract] [Full Text] [Related]

  • 16.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Robertson S.
    ; 1993 Jul 15. PubMed ID: 20301736
    [Abstract] [Full Text] [Related]

  • 17. Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant.
    Faye E, Modaff P, Pauli R, Legare J.
    Mol Syndromol; 2019 May 15; 10(3):154-160. PubMed ID: 31191204
    [Abstract] [Full Text] [Related]

  • 18.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Tiller GE.
    ; 1993 May 15. PubMed ID: 20301324
    [Abstract] [Full Text] [Related]

  • 19.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mehta PA, Ebens C.
    ; 1993 May 15. PubMed ID: 20301575
    [Abstract] [Full Text] [Related]

  • 20. Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
    Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A.
    Am J Med Genet A; 2011 Nov 15; 155A(11):2860-4. PubMed ID: 21964829
    [Abstract] [Full Text] [Related]

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