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Journal Abstract Search

415 related items for PubMed ID: 22469822

  • 1. 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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  • 2. A newborn diagnosed with van Maldergem syndrome.
    Ulubas Isik D, Unal S, Erol S, Arslan Z, Bas AY, Demirel N.
    Clin Dysmorphol; 2018 Apr; 27(2):63-65. PubMed ID: 29505454
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  • 4. Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.
    Mansour S, Swinkels M, Terhal PA, Wilson LC, Rich P, Van Maldergem L, Zwijnenburg PJ, Hall CM, Robertson SP, Newbury-Ecob R.
    Eur J Hum Genet; 2012 Oct; 20(10):1024-31. PubMed ID: 22473091
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  • 6. A patient with 9q subtelomeric deletion syndrome with additional findings.
    Tug E, Cavdarli B, Karaoguz MY, Percin FE.
    Genet Couns; 2012 Oct; 23(4):465-71. PubMed ID: 23431745
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  • 9. Terminal 2q37 deletion and autistic behaviour.
    Lukusa T, Smeets E, Vogels A, Vermeesch JR, Fryns JP.
    Genet Couns; 2005 Oct; 16(2):179-80. PubMed ID: 16080299
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  • 14. Partial trisomy 14q due to maternal t(4;14)(p16;q32) in a dysmorphic newborn.
    Dundar M, Uzak A, Saatci C, Akalin H.
    Genet Couns; 2011 Oct; 22(3):287-92. PubMed ID: 22029170
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  • 16. 19q13.32 microdeletion syndrome: three new cases.
    Castillo A, Kramer N, Schwartz CE, Miles JH, DuPont BR, Rosenfeld JA, Graham JM.
    Eur J Med Genet; 2014 Oct; 57(11-12):654-8. PubMed ID: 25230004
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  • 17. 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.
    Novara F, Alfei E, D'Arrigo S, Pantaleoni C, Beri S, Achille V, Sciacca FL, Giorda R, Zuffardi O, Ciccone R.
    Eur J Med Genet; 2013 Jan; 56(1):54-8. PubMed ID: 23085304
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  • 18. A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.
    Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E.
    Eur J Med Genet; 2012 Dec; 55(12):695-9. PubMed ID: 22986108
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