These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

151 related items for PubMed ID: 31302631

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3. Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
    MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC.
    Ophthalmology; 2014 Jul; 121(7):1461-8. PubMed ID: 24612975
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7. TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
    Dentici ML, Maglione V, Agolini E, Catena G, Capolino R, Lanari V, Novelli A, Sinibaldi L, Vecchio D, Gonfiantini MV, Macchiaiolo M, Digilio MC, Dallapiccola B, Bartuli A.
    Am J Med Genet A; 2020 Aug; 182(8):1977-1984. PubMed ID: 32573066
    [Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
    Jurgens JA, Barry BJ, Lemire G, Chan WM, Whitman MC, Shaaban S, Robson CD, MacKinnon S, England EM, McMillan HJ, Kelly C, Pratt BM, Care4Rare Canada Consortium, O'Donnell-Luria A, MacArthur DG, Boycott KM, Hunter DG, Engle EC.
    Eur J Hum Genet; 2021 May; 29(5):816-826. PubMed ID: 33649541
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
    Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC.
    Am J Med Genet A; 2016 Feb; 170A(2):297-305. PubMed ID: 26639658
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles.
    Ceylan AC, Gursoy H, Yildirim N, Basmak H, Erol N, Cilingir O.
    Ophthalmic Genet; 2017 Feb; 38(3):288-290. PubMed ID: 27428177
    [No Abstract] [Full Text] [Related]

  • 14. Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.
    Liu G, Chen X, Sun X, Liu H, Zhao K, Chang Q, Pan X, Wang X, Yuan S, Liu Q, Zhao C.
    Mol Vis; 2014 Feb; 20():15-23. PubMed ID: 24426772
    [Abstract] [Full Text] [Related]

  • 15. KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.
    Al-Haddad C, Boustany RM, Rachid E, Ismail K, Barry B, Chan WM, Engle E.
    Ophthalmic Genet; 2021 Apr; 42(2):195-199. PubMed ID: 33251926
    [Abstract] [Full Text] [Related]

  • 16. [Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD)].
    Hanisch F, Bau V, Zierz S.
    Nervenarzt; 2005 Apr; 76(4):395-402. PubMed ID: 15221064
    [Abstract] [Full Text] [Related]

  • 17. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
    Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF, Jabs EW, Hunter DG, Grant PE, Engle EC.
    Brain; 2013 Feb; 136(Pt 2):522-35. PubMed ID: 23378218
    [Abstract] [Full Text] [Related]

  • 18. Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia.
    Flaherty MP, Grattan-Smith P, Steinberg A, Jamieson R, Engle EC.
    Ophthalmology; 2001 Jul; 108(7):1313-22. PubMed ID: 11425694
    [Abstract] [Full Text] [Related]

  • 19. Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.
    Balasubramanian R, Chew S, MacKinnon SE, Kang PB, Andrews C, Chan WM, Engle EC.
    J Clin Endocrinol Metab; 2015 Mar; 100(3):E473-7. PubMed ID: 25559402
    [Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.