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Journal Abstract Search

142 related items for PubMed ID: 8004795

  • 1. Roberts-SC phocomelia syndrome: a case with additional anomalies.
    Satar M, Atici A, Bişak U, Tunali N.
    Clin Genet; 1994 Feb; 45(2):107-8. PubMed ID: 8004795
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  • 2. Roberts syndrome with normal cell division.
    Keppen LD, Gollin SM, Seibert JJ, Sisken JE.
    Am J Med Genet; 1991 Jan; 38(1):21-4. PubMed ID: 2012128
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  • 3. The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies.
    Gerkes EH, van der Kevie-Kersemaekers AM, Yakin M, Smeets DF, van Ravenswaaij-Arts CM.
    Eur J Med Genet; 2010 Jan; 53(1):40-4. PubMed ID: 19878742
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  • 4. The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.
    Goh ES, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel CF.
    Am J Med Genet A; 2010 Feb; 152A(2):472-8. PubMed ID: 20101700
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  • 6. [Roberts-SC phocomelia syndrome].
    Musfeld DA, Bühler EM, Heinzl S.
    Gynakol Geburtshilfliche Rundsch; 2001 Feb; 41(1):3-7. PubMed ID: 11423730
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  • 8. Roberts-SC phocomelia syndrome.
    Maheshwari A, Kumar P, Dutta S, Narang A.
    Indian J Pediatr; 2001 Jun; 68(6):557-9. PubMed ID: 11450388
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  • 9. Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.
    Temtamy SA, Ismail S, Helmy NA.
    Genet Couns; 2006 Jun; 17(1):1-13. PubMed ID: 16719272
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  • 11. Roberts-SC phocomelia syndrome with exencephaly.
    Verloes A, Herens C, Van Maldergem L, Retz MC, Dodinval P.
    Ann Genet; 1989 Jun; 32(3):169-70. PubMed ID: 2817778
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  • 12. Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.
    Schneeberger PE, Nayak SS, Fuchs S, Kutsche K, Girisha KM.
    Am J Med Genet A; 2020 Nov; 182(11):2793-2796. PubMed ID: 32783269
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  • 13. Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.
    Robins DB, Ladda RL, Thieme GA, Boal DK, Emanuel BS, Zackai EH.
    Am J Med Genet; 1989 Mar; 32(3):390-4. PubMed ID: 2658590
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  • 14. Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome?
    Song SY, Chi JG.
    Clin Genet; 1996 Dec; 50(6):502-4. PubMed ID: 9147883
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