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

226 related items for PubMed ID: 33562422

  • 41. PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
    Daich Varela M, Ullah E, Yousaf S, Brooks BP, Hufnagel RB, Huryn LA.
    Invest Ophthalmol Vis Sci; 2020 Oct 01; 61(12):1. PubMed ID: 33001157
    [Abstract] [Full Text] [Related]

  • 42. Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
    Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S.
    Hum Mutat; 2019 Aug 01; 40(8):1145-1155. PubMed ID: 31058429
    [Abstract] [Full Text] [Related]

  • 43. Genetic and Clinical Characterization of Danish Achromatopsia Patients.
    Andersen MKG, Bertelsen M, Grønskov K, Kohl S, Kessel L.
    Genes (Basel); 2023 Mar 10; 14(3):. PubMed ID: 36980963
    [Abstract] [Full Text] [Related]

  • 44. Analysis of Suspected Achromatopsia by Multimodal Diagnostic Testing.
    Kugler SA, Valmaggia C, Sturm V, Schorderet DF, Todorova MG.
    Klin Monbl Augenheilkd; 2023 Oct 10; 240(10):1158-1173. PubMed ID: 37714190
    [Abstract] [Full Text] [Related]

  • 45. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
    Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S.
    Hum Mutat; 2022 Jul 10; 43(7):832-858. PubMed ID: 35332618
    [Abstract] [Full Text] [Related]

  • 46.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 47. Progressive cone dystrophy associated with mutation in CNGB3.
    Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM.
    Invest Ophthalmol Vis Sci; 2004 Jun 10; 45(6):1975-82. PubMed ID: 15161866
    [Abstract] [Full Text] [Related]

  • 48.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 49.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 50.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 51.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 52.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 53.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 54.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 55. Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.
    Goto-Omoto S, Hayashi T, Gekka T, Kubo A, Takeuchi T, Kitahara K.
    Vis Neurosci; 2006 Jun 10; 23(3-4):395-402. PubMed ID: 16961972
    [Abstract] [Full Text] [Related]

  • 56. Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.
    Tanaka N, Dutrow EV, Miyadera K, Delemotte L, MacDermaid CM, Reinstein SL, Crumley WR, Dixon CJ, Casal ML, Klein ML, Aguirre GD, Tanaka JC, Guziewicz KE.
    PLoS One; 2015 Jun 10; 10(9):e0138943. PubMed ID: 26407004
    [Abstract] [Full Text] [Related]

  • 57.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 58.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 59.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 60.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 12.