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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

141 related items for PubMed ID: 35971781

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  • 25. Haploinsufficiency of TAB2 causes congenital heart defects in humans.
    Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Møllgård K, Tommerup N, Bache I, Tümer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA.
    Am J Hum Genet; 2010 Jun 11; 86(6):839-49. PubMed ID: 20493459
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  • 27. Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
    Hunter JM, Massingham LJ, Manickam K, Bartholomew D, Williamson RK, Schwab JL, Marhabaie M, Siemon A, de Los Reyes E, Reshmi SC, Cottrell CE, Wilson RK, Koboldt DC.
    Cold Spring Harb Mol Case Stud; 2022 Feb 11; 8(2):. PubMed ID: 35091509
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  • 29. 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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  • 30. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
    DeSanto C, D'Aco K, Araujo GC, Shannon N, DDD StudyWellcome Trust Sanger Institute, Cambridge, UK., Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M.
    J Med Genet; 2015 Nov 05; 52(11):754-61. PubMed ID: 26264232
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  • 33. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
    Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.
    Genome Med; 2019 Feb 28; 11(1):12. PubMed ID: 30819258
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  • 37. Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.
    van der Schoot V, de Munnik S, Venselaar H, Elting M, Mancini GMS, Ravenswaaij-Arts CMA, Anderlid BM, Brunner HG, Stevens SJC.
    Mol Genet Genomic Med; 2018 May 28; 6(3):393-400. PubMed ID: 29573576
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  • 39. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
    Hiraide T, Yamoto K, Masunaga Y, Asahina M, Endoh Y, Ohkubo Y, Matsubayashi T, Tsurui S, Yamada H, Yanagi K, Nakashima M, Hirano K, Sugimura H, Fukuda T, Ogata T, Saitsu H.
    Clin Genet; 2021 Jul 28; 100(1):40-50. PubMed ID: 33644862
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