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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

164 related items for PubMed ID: 32886330

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  • 6. Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.
    Khalifa O, Imtiaz F, Al-Sakati N, Al-Manea K, Verloes A, Al-Owain M.
    Eur J Pediatr; 2011 Jan; 170(1):121-6. PubMed ID: 20865280
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  • 7. Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient.
    Obara K, Abe E, Toyoshima I.
    Mol Syndromol; 2022 Jul; 13(4):350-359. PubMed ID: 36158050
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  • 8. A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review.
    Elalaoui SC, Mariam T, Ilham R, Yassamine D, Abdelaziz S.
    Indian J Hum Genet; 2011 May; 17(2):97-9. PubMed ID: 22090722
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  • 10. Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.
    Varshney K, Narayanachar SG, Girisha KM, Bhavani GS, Narayanan D, Phadke S, Nampoothiri S, Udupi GA, Raghupathy P, Nair M, Geetha TS, Bhat M.
    J Med Genet; 2023 Feb; 60(2):204-211. PubMed ID: 35477554
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  • 12. Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
    Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V.
    Am J Med Genet A; 2006 Mar 01; 140(5):421-6. PubMed ID: 16470731
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  • 13. Dyggve melchior clausen syndrome.
    Gupta V, Kohli A, Dewan V.
    Indian Pediatr; 2010 Nov 01; 47(11):973-5. PubMed ID: 21149903
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  • 16. Heterogeneity of Dyggve-Melchior-Clausen dwarfism.
    Spranger J, Bierbaum B, Herrmann J.
    Hum Genet; 1976 Aug 30; 33(3):279-87. PubMed ID: 964990
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  • 20. A novel RAB33B mutation in Smith-McCort dysplasia.
    Dupuis N, Lebon S, Kumar M, Drunat S, Graul-Neumann LM, Gressens P, El Ghouzzi V.
    Hum Mutat; 2013 Feb 30; 34(2):283-6. PubMed ID: 23042644
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