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Journal Abstract Search

272 related items for PubMed ID: 30789692

  • 21. Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
    Wiltrout K, Brimble E, Poduri A.
    Epilepsia; 2024 May; 65(5):1428-1438. PubMed ID: 38470175
    [Abstract] [Full Text] [Related]

  • 22.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Hammer MF, Xia M, Schreiber JM.
    ; 1993 May. PubMed ID: 27559564
    [Abstract] [Full Text] [Related]

  • 23.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Bostwick B.
    ; 1993 May. PubMed ID: 30702837
    [Abstract] [Full Text] [Related]

  • 24.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Bonkowski E, Fathi E, Mefford HC.
    ; 1993 May. PubMed ID: 39083633
    [Abstract] [Full Text] [Related]

  • 25.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mastrangelo M, Caputi C, Esposito D, Leuzzi V.
    ; 1993 May. PubMed ID: 20301774
    [Abstract] [Full Text] [Related]

  • 26.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mulle JG, Gambello MJ, Sanchez Russo R, Murphy MM, Burrell TL, Klaiman C, White S, Saulnier CA, Walker EF, Cubells JF, Shultz S, Li L.
    ; 1993 May. PubMed ID: 27656750
    [Abstract] [Full Text] [Related]

  • 27.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Johnson-Kerner B, Snijders Blok L, Suit L, Thomas J, Kleefstra T, Sherr EH.
    ; 1993 May. PubMed ID: 32852922
    [Abstract] [Full Text] [Related]

  • 28.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Lin AE, Brunetti-Pierri N, Lindsay ME, Schimmenti LA, Starr LJ.
    ; 1993 May. PubMed ID: 28406602
    [Abstract] [Full Text] [Related]

  • 29.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mitchel MW, Myers SM, Heidlebaugh AR, Taylor CM, Rea H, Neuhaus E, Kurtz-Nelson EC, Earl R, Bernier R, Ledbetter DH, Martin CL, Eichler EE.
    ; 1993 May. PubMed ID: 36302072
    [Abstract] [Full Text] [Related]

  • 30.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Rogers RC, Abidi FE.
    ; 1993 May. PubMed ID: 20301520
    [Abstract] [Full Text] [Related]

  • 31.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mercimek-Andrews S, Salomons GS.
    ; 1993 May. PubMed ID: 20301745
    [Abstract] [Full Text] [Related]

  • 32.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Miller IO, Sotero de Menezes MA.
    ; 1993 May. PubMed ID: 20301494
    [Abstract] [Full Text] [Related]

  • 33.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Moosajee M, Hingorani M, Moore AT.
    ; 1993 May. PubMed ID: 20301534
    [Abstract] [Full Text] [Related]

  • 34.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Zarate YA, Bosanko K, Fish J.
    ; 1993 May. PubMed ID: 29023086
    [Abstract] [Full Text] [Related]

  • 35.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Miceli F, Soldovieri MV, Weckhuysen S, Cooper EC, Taglialatela M.
    ; 1993 May. PubMed ID: 24851285
    [Abstract] [Full Text] [Related]

  • 36. Behavioural phenotype of SYNGAP1-related intellectual disability.
    Kranak MP, Rooker G, Smith-Hicks C.
    J Intellect Disabil Res; 2024 Sep; 68(9):1036-1049. PubMed ID: 38783394
    [Abstract] [Full Text] [Related]

  • 37.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Wang D, Pascual JM, De Vivo D.
    ; 1993 Sep. PubMed ID: 20301603
    [Abstract] [Full Text] [Related]

  • 38.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Lippa N, Mulhern M, Ernst Florido M, Earley C, Sands TT.
    ; 1993 Sep. PubMed ID: 39236211
    [Abstract] [Full Text] [Related]

  • 39. De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
    Parker MJ, Fryer AE, Shears DJ, Lachlan KL, McKee SA, Magee AC, Mohammed S, Vasudevan PC, Park SM, Benoit V, Lederer D, Maystadt I, Study D, FitzPatrick DR.
    Am J Med Genet A; 2015 Oct; 167A(10):2231-7. PubMed ID: 26079862
    [Abstract] [Full Text] [Related]

  • 40.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Balasubramanian M, Schirwani S.
    ; 1993 Oct. PubMed ID: 33151654
    [Abstract] [Full Text] [Related]

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