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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

398 related items for PubMed ID: 29681106

  • 21.
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  • 22. Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.
    Van Paemel R, De Bruyne P, van der Straaten S, D'hondt M, Fränkel U, Dheedene A, Menten B, Callewaert B.
    Am J Med Genet A; 2017 Nov; 173(11):3104-3108. PubMed ID: 28884947
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  • 26. A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
    Frosk P, Chodirker B, Simard L, El-Matary W, Hanlon-Dearman A, Schwartzentruber J, Majewski J, FORGE Canada Consortium, Rockman-Greenberg C.
    BMC Med Genet; 2015 Apr 30; 16():28. PubMed ID: 25925991
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  • 27. Kaufman oculocerebrofacial syndrome in a girl of 15 years.
    Briscioli V, Manoukian S, Selicorni A, Livini E, Lalatta F.
    Am J Med Genet; 1995 Jul 31; 58(1):21-3. PubMed ID: 7573151
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  • 28. Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome.
    Zampino G, Colosimo C, Balducci F, Mariotti P, Serra F, Scarano G, Mastroiacovo P.
    Clin Genet; 1994 Mar 31; 45(3):140-4. PubMed ID: 8026105
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  • 31. Further delineation of the KAT6B molecular and phenotypic spectrum.
    Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF, DDD study, Smith J, Clayton-Smith J.
    Eur J Hum Genet; 2015 Sep 31; 23(9):1165-70. PubMed ID: 25424711
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  • 34. A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.
    Marangi G, Di Giacomo MC, Lattante S, Orteschi D, Patrizi S, Doronzio PN, Riviello FN, Vaisfeld A, Frangella S, Zollino M.
    Am J Med Genet A; 2018 Feb 31; 176(2):455-459. PubMed ID: 29226580
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  • 35. A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.
    Sullivan JA, Stong N, Baugh EH, McDonald MT, Takeuchi A, Shashi V.
    Am J Med Genet A; 2020 Aug 31; 182(8):1947-1951. PubMed ID: 32445275
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  • 36. Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.
    Lestner JM, Chong WK, Offiiah A, Kefas J, Vandersteen AM.
    Clin Dysmorphol; 2012 Jul 31; 21(3):152-154. PubMed ID: 22473152
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  • 40. Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.
    Tas E, Sebastian J, Madan-Khetarpal S, Sweet P, Yatsenko AN, Pollock N, Rajkovic A, Schneck FX, Yatsenko SA, Witchel SF.
    Am J Med Genet A; 2017 Jan 31; 173(1):221-224. PubMed ID: 27649277
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