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

210 related items for PubMed ID: 30851085

  • 1. A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.
    Ridnõi K, Šois M, Vaidla E, Pajusalu S, Kelder L, Reimand T, Õunap K.
    Mol Genet Genomic Med; 2019 May; 7(5):e614. PubMed ID: 30851085
    [Abstract] [Full Text] [Related]

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

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 5. Novel homozygous mutations in TXNDC15 causing Meckel syndrome.
    Deng T, Xie Y.
    Mol Genet Genomic Med; 2024 Mar; 12(3):e2343. PubMed ID: 38156946
    [Abstract] [Full Text] [Related]

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

  • 7. The First Reported Case of Meckel-Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17.
    Cierna Z, Janega P, Grochal F, Ferianec V, Braxatorisova T, Strieskova L, Malova J, Jungova P, Szemes T.
    Pediatr Dev Pathol; 2017 Mar; 20(5):449-454. PubMed ID: 28812468
    [Abstract] [Full Text] [Related]

  • 8. Mutations in TMEM231 cause Meckel-Gruber syndrome.
    Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS.
    J Med Genet; 2013 Mar; 50(3):160-2. PubMed ID: 23349226
    [Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

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

  • 12. Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations.
    Stembalska A, Rydzanicz M, Pollak A, Kostrzewa G, Stawinski P, Biela M, Ploski R, Smigiel R.
    Genes (Basel); 2021 Jul 16; 12(7):. PubMed ID: 34356094
    [Abstract] [Full Text] [Related]

  • 13. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
    Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FS.
    Hum Mutat; 2011 Jun 16; 32(6):573-8. PubMed ID: 21462283
    [Abstract] [Full Text] [Related]

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

  • 15. Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
    Watson CM, Crinnion LA, Berry IR, Harrison SM, Lascelles C, Antanaviciute A, Charlton RS, Dobbie A, Carr IM, Bonthron DT.
    BMC Med Genet; 2016 Jan 04; 17():1. PubMed ID: 26729329
    [Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. A rare case of Meckel-Gruber syndrome.
    Chiriac DV, Hogea LM, Bredicean AC, Rednic R, Nussbaum LA, Hogea GB, Grigoraş ML.
    Rom J Morphol Embryol; 2017 Jan 04; 58(3):1023-1027. PubMed ID: 29250684
    [Abstract] [Full Text] [Related]

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

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

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

    Page: [Next] [New Search]
    of 11.