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

196 related items for PubMed ID: 22750323

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

  • 2. A recognizable phenotype related to 19p13.12 microdeletion.
    de Souza LC, Sgardioli IC, Gil-da-Silva-Lopes VL, Vieira TP.
    Am J Med Genet A; 2018 Aug; 176(8):1753-1759. PubMed ID: 30055032
    [Abstract] [Full Text] [Related]

  • 3. A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12.
    Van der Aa N, Vandeweyer G, Kooy RF.
    Eur J Med Genet; 2010 Aug; 53(5):291-3. PubMed ID: 20570643
    [Abstract] [Full Text] [Related]

  • 4. First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.
    Huynh MT, Tosca L, Petit F, Martinovic J, Proust A, Bouligand J, Amiel J, Azria E, Parisot F, Benoit V, Receveur A, Drévillon L, Tachdjian G, Brisset S.
    Eur J Med Genet; 2018 Jun; 61(6):322-328. PubMed ID: 29366875
    [Abstract] [Full Text] [Related]

  • 5. A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.
    Preiksaitiene E, Männik K, Dirse V, Utkus A, Ciuladaite Z, Kasnauskiene J, Kurg A, Kučinskas V.
    Eur J Med Genet; 2012 Nov; 55(11):656-9. PubMed ID: 22842074
    [Abstract] [Full Text] [Related]

  • 6. A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.
    Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E.
    Eur J Med Genet; 2012 Dec; 55(12):695-9. PubMed ID: 22986108
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.
    Hancarova M, Vejvalkova S, Trkova M, Drabova J, Dleskova A, Vlckova M, Sedlacek Z.
    Gene; 2013 Mar 01; 516(1):158-61. PubMed ID: 23266801
    [Abstract] [Full Text] [Related]

  • 9. 19q13.32 microdeletion syndrome: three new cases.
    Castillo A, Kramer N, Schwartz CE, Miles JH, DuPont BR, Rosenfeld JA, Graham JM.
    Eur J Med Genet; 2014 Mar 01; 57(11-12):654-8. PubMed ID: 25230004
    [Abstract] [Full Text] [Related]

  • 10. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
    Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K.
    Eur J Med Genet; 2012 Mar 01; 55(8-9):490-7. PubMed ID: 22561202
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 13. De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability.
    Brett MS, Ng IS, Lim EC, Yong MH, Li Z, Lai A, Tan EC.
    Gene; 2013 Mar 15; 517(1):82-8. PubMed ID: 23313878
    [Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism.
    Jonsson DI, Ludvigsson P, Aradhya S, Sigurdardottir S, Steinarsdottir M, Hauksdottir H, Jonsson JJ.
    Eur J Med Genet; 2012 Jun 15; 55(6-7):437-40. PubMed ID: 22534424
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.
    Orellana C, Roselló M, Monfort S, Mayo S, Oltra S, Martínez F.
    Am J Med Genet A; 2015 Jul 15; 167(7):1614-20. PubMed ID: 25858326
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 10.