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Journal Abstract Search

175 related items for PubMed ID: 38467738

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  • 6. Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.
    Abbasi AA, Blaesius K, Hu H, Latif Z, Picker-Minh S, Khan MN, Farooq S, Khan MA, Kaindl AM.
    Am J Med Genet B Neuropsychiatr Genet; 2017 Dec; 174(8):839-845. PubMed ID: 29031008
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  • 7. 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
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  • 8. Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.
    Rasool IG, Zahoor MY, Iqbal M, Anjum AA, Ashraf F, Abbas HQ, Baig HMA, Mahmood T, Shehzad W.
    Genes Genomics; 2021 May; 43(5):503-512. PubMed ID: 33710595
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  • 9. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.
    Khalil R, Kenny C, Hill RS, Mochida GH, Nasir R, Partlow JN, Barry BJ, Al-Saffar M, Egan C, Stevens CR, Gabriel SB, Barkovich AJ, Ellison JW, Al-Gazali L, Walsh CA, Chahrour MH.
    Am J Med Genet B Neuropsychiatr Genet; 2018 Dec; 177(8):736-745. PubMed ID: 30421579
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  • 10. Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.
    Alvarez-Mora MI, Corominas J, Gilissen C, Sanchez A, Madrigal I, Rodriguez-Revenga L.
    Genes (Basel); 2021 Apr 12; 12(4):. PubMed ID: 33921338
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  • 11. Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.
    Yousefipour F, Mozhdehipanah H, Mahjoubi F.
    Mol Genet Genomic Med; 2021 Dec 12; 9(12):e1610. PubMed ID: 33513295
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  • 12. Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
    Brugger M, Brunet T, Wagner M, Orec LE, Schwaibold EMC, Boy N.
    Gene; 2021 Feb 05; 768():145260. PubMed ID: 33164824
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  • 13. A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.
    Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Inoue K, Goto YI.
    Cold Spring Harb Mol Case Stud; 2019 Dec 05; 5(6):. PubMed ID: 31444167
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  • 14. A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
    Kakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, Nürnberg P, Kubisch C, Ahmad J, Borck G.
    Eur J Med Genet; 2012 Dec 05; 55(12):727-31. PubMed ID: 22989526
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  • 15. Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings.
    Zhang X, Wang Y, Yang F, Tang J, Xu X, Yang L, Yang XA, Wu D.
    J Mol Neurosci; 2020 Jan 05; 70(1):1-8. PubMed ID: 31428919
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  • 16. Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature.
    Okur V, Ganapathi M, Wilson A, Chung WK.
    Cold Spring Harb Mol Case Stud; 2018 Oct 05; 4(5):. PubMed ID: 30275004
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  • 17. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
    Enomoto Y, Tsurusaki Y, Yokoi T, Abe-Hatano C, Ida K, Naruto T, Mitsui J, Tsuji S, Morishita S, Kurosawa K.
    Eur J Med Genet; 2020 Jan 05; 63(1):103610. PubMed ID: 30602132
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  • 18. Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family.
    Lahbib S, Trabelsi M, Dallali H, Sakka R, Bourourou R, Kefi R, Mrad R, Abdelhak S, Gaddour N.
    Mol Biol Rep; 2019 Aug 05; 46(4):4185-4193. PubMed ID: 31098807
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  • 19. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
    Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA, Undiagnosed Diseases Network,, Eichler EE, Vincent JB, University of Washington Center for Mendelian Genomics (UW-CMG),, Bamshad MJ.
    Genet Med; 2020 Mar 05; 22(3):538-546. PubMed ID: 31723249
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  • 20. Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.
    Qian Y, Wu B, Lu Y, Zhou W, Wang S, Wang H.
    BMC Med Genet; 2020 Feb 12; 21(1):31. PubMed ID: 32050918
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