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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

320 related items for PubMed ID: 8074143

  • 1. Microcephalic osteodysplastic dysplasia.
    Hersh JH, Joyce MR, Spranger J, Goatley EC, Lachman RS, Bhatt S, Rimoin DL.
    Am J Med Genet; 1994 Jul 01; 51(3):194-9. PubMed ID: 8074143
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  • 2. Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II.
    Webber N, O'Toole EA, Paige DG, Rosser E.
    Pediatr Dermatol; 2008 Jul 01; 25(3):401-2. PubMed ID: 18577061
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  • 3. Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts.
    Tüysüz B, Zeybek C, Zorer G, Sipahi O, Ungür S.
    Am J Med Genet; 2002 May 01; 109(3):206-10. PubMed ID: 11977180
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  • 4. Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay.
    Feingold M, Hall BD, Lacassie Y, Martínez-Frías ML.
    Am J Med Genet; 1997 Mar 31; 69(3):245-9. PubMed ID: 9096752
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  • 8. Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181-190].
    Hall JG.
    Am J Med Genet A; 2005 May 15; 135(1):114; author reply 115. PubMed ID: 15723335
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  • 10. Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology.
    Zampino G, Mastroiacovo P, Ricci R, Zollino M, Segni G, Martini-Neri ME, Neri G.
    Am J Med Genet; 1993 Aug 15; 47(2):176-83. PubMed ID: 8213903
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  • 11. Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder.
    Martínez-Frías ML, Martín M, Pardo M, Fernandez de las Heras F, Frías JL.
    Am J Med Genet; 1995 Jan 16; 55(2):213-6. PubMed ID: 7717420
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  • 14. Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.
    Berger A, Haschke N, Kohlhauser C, Amman G, Unterberger U, Weninger M.
    J Med Genet; 1998 Jan 16; 35(1):61-4. PubMed ID: 9475098
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  • 19. Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome?
    Mégarbané A, Ghanem I, Romana S, Gosset P, Caillaud C.
    Genet Couns; 2002 Jan 16; 13(2):123-31. PubMed ID: 12150211
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  • 20. Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
    Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Encha-Razavi F, Joye N, Berchel C, Fliegel C, Aughton DJ, Beaudry-Rodgers K, Hasteh F, Nerlich AG, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P.
    Am J Med Genet; 2002 Apr 22; 109(2):139-48. PubMed ID: 11977163
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