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Journal Abstract Search

119 related items for PubMed ID: 32802957

  • 1. LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.
    Neuhofer CM, Catarino CB, Schmidt H, Seelos K, Alhaddad B, Haack TB, Klopstock T.
    Neurol Genet; 2020 Oct; 6(5):e500. PubMed ID: 32802957
    [Abstract] [Full Text] [Related]

  • 2. Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.
    Sheth J, Ranjan G, Shah K, Bhavsar R, Sheth F.
    Am J Med Genet A; 2017 Apr; 173(4):1041-1046. PubMed ID: 28181389
    [Abstract] [Full Text] [Related]

  • 3. Domain-specific phenotypes in LINS1-related disorder-A Chinese family with the Q92X variant and literature review.
    Li XY, Wang Z, Yang Y, Lin R, Wang C.
    Am J Med Genet C Semin Med Genet; 2024 Dec; 196(4):e32085. PubMed ID: 38563234
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  • 4. Identification of a novel nonsense homozygous mutation of LINS1 gene in two sisters with intellectual disability, schizophrenia, and anxiety.
    Chen CH, Huang YS, Fang TH.
    Biomed J; 2021 Dec; 44(6):748-751. PubMed ID: 34450347
    [Abstract] [Full Text] [Related]

  • 5. A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability.
    Muthusamy B, Bellad A, Prasad P, Bandari AK, Bhuvanalakshmi G, Kiragasur RM, Girimaj SC, Pandey A.
    Front Psychiatry; 2020 Dec; 11():354. PubMed ID: 32499722
    [Abstract] [Full Text] [Related]

  • 6. Neuroimaging studies and whole exome sequencing of PLA2G6-associated neurodegeneration in a family with intrafamilial phenotypic heterogeneity.
    Kim YJ, Lyoo CH, Hong S, Kim NY, Lee MS.
    Parkinsonism Relat Disord; 2015 Apr; 21(4):402-6. PubMed ID: 25634434
    [Abstract] [Full Text] [Related]

  • 7. A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.
    Accogli A, Hamdan FF, Poulin C, Nassif C, Rouleau GA, Michaud JL, Srour M.
    Am J Med Genet A; 2018 Apr; 176(4):985-991. PubMed ID: 29430868
    [Abstract] [Full Text] [Related]

  • 8. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
    Evers C, Kaufmann L, Seitz A, Paramasivam N, Granzow M, Karch S, Fischer C, Hinderhofer K, Gdynia G, Elsässer M, Pinkert S, Schlesner M, Bartram CR, Moog U.
    Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
    [Abstract] [Full Text] [Related]

  • 9. Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype.
    Zhang Y, Liu Y, Li Y, Duan Y, Zhang K, Wang J, Dai Y.
    BMC Med Genet; 2014 Sep 19; 15():105. PubMed ID: 25234129
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  • 14. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
    Mroske C, Rasmussen K, Shinde DN, Huether R, Powis Z, Lu HM, Baxter RM, McPherson E, Tang S.
    BMC Med Genet; 2015 Nov 05; 16():102. PubMed ID: 26542245
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  • 16. Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome.
    Yazdani S, Badjatiya A, Dorrani N, Lee H, Grody WW, Nelson SF, Dipple KM.
    Mol Genet Metab Rep; 2020 Jun 05; 23():100582. PubMed ID: 32280589
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  • 17. A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.
    Smith JA, Holden KR, Friez MJ, Jones JR, Lyons MJ.
    Am J Med Genet A; 2016 Dec 05; 170(12):3313-3318. PubMed ID: 27570168
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  • 18. [3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review].
    Zhu H, Bao X, Zhang Y.
    Zhonghua Er Ke Za Zhi; 2015 Aug 05; 53(8):626-30. PubMed ID: 26717663
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  • 19. A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature.
    Karimi AH, Karimi MR, Farnia P, Parvini F, Foroutan M.
    Appl Clin Genet; 2020 Aug 05; 13():151-157. PubMed ID: 32943903
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