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

115 related items for PubMed ID: 39003656

  • 21. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
    Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A.
    Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
    [Abstract] [Full Text] [Related]

  • 22. Exome sequencing identifies three novel candidate genes implicated in intellectual disability.
    Agha Z, Iqbal Z, Azam M, Ayub H, Vissers LE, Gilissen C, Ali SH, Riaz M, Veltman JA, Pfundt R, van Bokhoven H, Qamar R.
    PLoS One; 2014 Jul; 9(11):e112687. PubMed ID: 25405613
    [Abstract] [Full Text] [Related]

  • 23. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
    Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L.
    J Med Genet; 2017 Jul; 54(7):479-488. PubMed ID: 28119487
    [Abstract] [Full Text] [Related]

  • 24. Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
    Rasheed A, Gumus E, Zaki M, Johnson K, Manzoor H, LaForce G, Ross D, McEvoy-Venneri J, Stanley V, Lee S, Virani A, Ben-Omran T, Gleeson JG, Naz S, Schaffer A.
    J Med Genet; 2021 Apr; 58(4):237-246. PubMed ID: 32439809
    [Abstract] [Full Text] [Related]

  • 25. Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
    Kaymakcalan H, Yarman Y, Goc N, Toy F, Meral C, Ercan-Sencicek AG, Gunel M.
    Am J Med Genet A; 2018 Feb; 176(2):421-425. PubMed ID: 29226631
    [Abstract] [Full Text] [Related]

  • 26. Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
    Assoum M, Bruel AL, Crenshaw ML, Delanne J, Wentzensen IM, McWalter K, Dent KM, Vitobello A, Kuentz P, Thevenon J, Duffourd Y, Thauvin-Robinet C, Faivre L.
    Am J Med Genet A; 2020 Apr; 182(4):792-797. PubMed ID: 31953988
    [Abstract] [Full Text] [Related]

  • 27. ELP2 is a novel gene implicated in neurodevelopmental disabilities.
    Cohen JS, Srivastava S, Farwell KD, Lu HM, Zeng W, Lu H, Chao EC, Fatemi A.
    Am J Med Genet A; 2015 Jun; 167(6):1391-5. PubMed ID: 25847581
    [Abstract] [Full Text] [Related]

  • 28. Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report.
    Bader I, McTiernan N, Darbakk C, Boltshauser E, Ree R, Ebner S, Mayr JA, Arnesen T.
    BMC Med Genet; 2020 Jul 22; 21(1):153. PubMed ID: 32698785
    [Abstract] [Full Text] [Related]

  • 29. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat S, Désir J, Benoit V, Boulanger S, Pendeville H, Nassogne MC, Lederer D, Maystadt I.
    Am J Med Genet A; 2016 Nov 22; 170(11):2927-2933. PubMed ID: 27333055
    [Abstract] [Full Text] [Related]

  • 30. Identification of Four Novel Candidate Genes for Non-syndromic Intellectual Disability in Pakistani Families.
    Ahmed I, Muzammal M, Khan MA, Ullah H, Farid A, Yasin M, Khan J, Alam K, Mir A.
    Biochem Genet; 2024 Aug 22; 62(4):2571-2586. PubMed ID: 37985543
    [Abstract] [Full Text] [Related]

  • 31.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 32. A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.
    Jia W, Hu Q, Wu Y, Wang J, Liu Z, Zhang X.
    J Gene Med; 2020 Aug 22; 22(8):e3191. PubMed ID: 32222108
    [Abstract] [Full Text] [Related]

  • 33.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 34. Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
    Hiatt SM, Thompson ML, Prokop JW, Lawlor JMJ, Gray DE, Bebin EM, Rinne T, Kempers M, Pfundt R, van Bon BW, Mignot C, Nava C, Depienne C, Kalsner L, Rauch A, Joset P, Bachmann-Gagescu R, Wentzensen IM, McWalter K, Cooper GM.
    Am J Hum Genet; 2019 Apr 04; 104(4):701-708. PubMed ID: 30879638
    [Abstract] [Full Text] [Related]

  • 35. Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
    Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Rivière JB, Faivre L, Innes AM, Lebel RR, Boycott KM, Care4Rare Canada Consortium.
    Clin Genet; 2017 Jan 04; 91(1):92-99. PubMed ID: 27102954
    [Abstract] [Full Text] [Related]

  • 36.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 37.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 38. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
    Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM.
    Lancet; 2012 Nov 10; 380(9854):1674-82. PubMed ID: 23020937
    [Abstract] [Full Text] [Related]

  • 39.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 40.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 6.