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Journal Abstract Search

160 related items for PubMed ID: 17288936

  • 21. [Anesthetic management of a patient with Dyggve-Melchior-Clausen syndrome].
    Eguchi M, Kadota Y, Yoshida Y, Masuda M, Masuyama T, Kammura Y.
    Masui; 2001 Oct; 50(10):1116-7. PubMed ID: 11712346
    [Abstract] [Full Text] [Related]

  • 22. [Dyggve-Melchior-Clausen syndrome].
    Beemer FA, Hennekam RC.
    Tijdschr Kindergeneeskd; 1984 Jun; 52(3):103-7. PubMed ID: 6506057
    [Abstract] [Full Text] [Related]

  • 23. The Dyggve-Melchior-Clausen syndrome in Indian siblings.
    Winship WS, Rubin DL.
    Clin Genet; 1992 Nov; 42(5):240-5. PubMed ID: 1486701
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  • 26. 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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  • 27. Dyggve-Melchiore-Clausen dysplasia (DMC): syndrome associated with a micropenis.
    Latrech H, Skiker I, Bentata Y, Alami Z, Mouhib Lav O, Oulali N, Benajiba N, Benmassoud S, El Jabri M, Gaouzi A, Gharbi MH, Chradibi A.
    Pediatr Endocrinol Rev; 2013 Dec; 11(2):181-5. PubMed ID: 24575553
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  • 30. The Dyggve-Melchior-Clausen syndrome.
    Kaufman RL, Rimoin DL, McAlister WH.
    Birth Defects Orig Artic Ser; 1971 Feb; 7(1):144-9. PubMed ID: 5006211
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  • 31. New autosomal recessive syndrome of mental retardation, coarse face, microcephaly, epilepsy and skeletal abnormalities.
    Battaglia A, Ferrari AR, Orsitto E, Gibilisco G, Neri G.
    Clin Dysmorphol; 1996 Jan; 5(1):41-7. PubMed ID: 8867658
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  • 32. A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.
    Gaboon NEA, Parveen A, Ahmad KA, Shuaib T, Al-Aama JY, Abdelwehab L, Arif A, Wasif N.
    Front Pediatr; 2020 Jan; 8():383. PubMed ID: 32766185
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  • 33. Atlantoaxial Instability Treated with Posterior Atlantoaxial Fixation in Two Siblings with Dyggve-Melchior-Clausen Syndrome.
    Shah A, Bhambere S, Ranjan S, Dandpat S, Goel A.
    Turk Neurosurg; 2020 Jan; 30(6):956-960. PubMed ID: 33216345
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  • 34. X-linked Dyggve-Melchior-Clausen syndrome.
    Yunis E, Fontalvo J, Quintero L.
    Clin Genet; 1980 Oct; 18(4):284-90. PubMed ID: 7192195
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  • 35. A Rare Case of Dyggve-Melchior-Clausen Syndrome: A Case Report.
    Chavan S, Chalipat S, Verma S, Kumar G, Mane S.
    Cureus; 2024 Sep; 16(9):e69495. PubMed ID: 39416591
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  • 36. 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; 34(2):283-6. PubMed ID: 23042644
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  • 37. The Dyggve-Melchior-Clausen syndrome.
    Spranger J, Maroteaux P, Der Kaloustian VM.
    Radiology; 1975 Feb; 114(2):415-21. PubMed ID: 803318
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  • 38. New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia.
    Gurrieri F, Sammito V, Bellussi A, Neri G.
    Am J Med Genet; 1992 Oct 01; 44(3):315-20. PubMed ID: 1488978
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  • 39. Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications.
    López-Garrido MP, Carrascosa-Romero MC, Montero-Hernández M, Serrano-Martínez CM, Sánchez-Sánchez F.
    Front Genet; 2022 Oct 01; 13():1005573. PubMed ID: 36468000
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  • 40. Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration.
    Khosravi M, Weaver DD, Bull MJ, Lachman R, Rimoin DL.
    Am J Med Genet; 1998 Apr 28; 77(1):63-71. PubMed ID: 9557897
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