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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

175 related items for PubMed ID: 24501761

  • 1. Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.
    Sousa SB, Ramos F, Garcia P, Pais RP, Paiva C, Beales PL, Moore GE, Saraiva JM, Hennekam RC.
    Am J Med Genet A; 2014 Jan; 164A(1):10-4. PubMed ID: 24501761
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  • 2. 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
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  • 5. Intellectual disability, unusual facial morphology and hand anomalies in sibs.
    Sousa SB, Venâncio M, Chanudet E, Palmer R, Ramos L, Beales PL, Moore GE, Saraiva JM, Hennekam RC.
    Am J Med Genet A; 2013 Oct; 161A(10):2401-6. PubMed ID: 23949889
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  • 8. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
    Jiang C, Gai N, Zou Y, Zheng Y, Ma R, Wei X, Liang D, Wu L.
    Clin Chim Acta; 2017 Jan; 464():24-29. PubMed ID: 27983999
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  • 11. An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation.
    Buttiens M, Fryns JP, van den Berghe H.
    Clin Genet; 1989 Dec; 36(6):451-55. PubMed ID: 2591071
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  • 14. Severe pre- and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity.
    Grubben C, de Cock P, Borghgraef M, van den Berghe H, Fryns JP.
    Clin Genet; 1992 Jan; 41(1):16-21. PubMed ID: 1378778
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  • 16. Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?
    de Mattos VF, Graziadio C, Machado Rosa RF, Lenhardt R, Alves RP, Trevisan P, Paskulin GA, Zen PR.
    Pediatr Neurol; 2014 Jun; 50(6):612-5. PubMed ID: 24690526
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  • 19. A further patient with van Maldergem syndrome.
    Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N.
    Eur J Med Genet; 2012 Jun; 55(6-7):423-8. PubMed ID: 22469822
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