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Journal Abstract Search

194 related items for PubMed ID: 4997787

  • 1. Hemifacial microsomia--oculo-auriculo-vertebral dysplasia. A patient with overlapping features.
    Pashayan H, Pinsky L, Fraser FC.
    J Med Genet; 1970 Jun; 7(2):185-8. PubMed ID: 4997787
    [No Abstract] [Full Text] [Related]

  • 2. The acrofacial dysostoses--a wide spectrum of overlapping phenotypes.
    Dimitrov B, Balikova I, Bradinova I, Zahariev D, Popova A, Simeonov E, De Smet L, Devriendt K, Fryns JP.
    Genet Couns; 2005 Jun; 16(2):181-6. PubMed ID: 16080300
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  • 4. Rubinstein-Taybi syndrome.
    Berry AC.
    J Med Genet; 1987 Sep; 24(9):562-6. PubMed ID: 3312608
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  • 7. [Oculo-auriculo-vertebral syndrome].
    Pomerleau D, Amyot M.
    Union Med Can; 1972 Mar; 101(3):462-5. PubMed ID: 5013464
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  • 10. Goldenhar's syndrome: two cases of oculo-auriculo-vertebral dysplasia occurring in full-blood Australian Aboriginal sisters.
    Kirke DK.
    Aust Paediatr J; 1970 Mar; 6(1):213-4. PubMed ID: 5520428
    [No Abstract] [Full Text] [Related]

  • 11. Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
    Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M.
    Eur J Med Genet; 2015 Sep; 58(9):455-65. PubMed ID: 26206081
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  • 14. Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
    Lehalle D, Gordon CT, Oufadem M, Goudefroye G, Boutaud L, Alessandri JL, Baena N, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Decaestecker C, Gaillard D, Goldenberg A, Gonzales M, Holder-Espinasse M, Jacquemont ML, Lacombe D, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Morin G, Pasquier L, Petit F, Rio M, Smigiel R, Thauvin-Robinet C, Vasiljevic A, Verloes A, Malan V, Munnich A, de Pontual L, Vekemans M, Lyonnet S, Attié-Bitach T, Amiel J.
    Hum Mutat; 2014 Apr; 35(4):478-85. PubMed ID: 24470203
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  • 17. Oculo-auriculo-vertebral dysplasia: case report.
    Orzincolo C, Corcione S, Bighi S, Vita G.
    Pediatr Radiol; 1987 Apr; 17(4):330-2. PubMed ID: 3601470
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