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Journal Abstract Search

189 related items for PubMed ID: 7551160

  • 1. Microcephalic osteodysplastic primordial dwarfism type II.
    al Gazali LI, Hamada M, Lytle W.
    Clin Dysmorphol; 1995 Jul; 4(3):234-8. PubMed ID: 7551160
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  • 4. Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review.
    Majewski F, Goecke TO.
    Am J Med Genet; 1998 Oct 30; 80(1):25-31. PubMed ID: 9800908
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  • 7. 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 30; 35(1):61-4. PubMed ID: 9475098
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  • 8. A 17-month-old with extreme prenatal-onset growth delay. Microcephalic osteodysplastic primordial dwarfism type II.
    Tekin M, Ng J, Bodurtha J.
    Eur J Pediatr; 2000 Dec 30; 159(12):926-8. PubMed ID: 11131353
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  • 10. Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
    Abdel-Salam GMH, Sayed ISM, Afifi HH, Abdel-Ghafar SF, Abouzaid MR, Ismail SI, Aglan MS, Issa MY, El-Bassyouni HT, El-Kamah G, Effat LK, Eid M, Zaki MS, Temtamy SA, Abdel-Hamid MS.
    Am J Med Genet A; 2020 Jun 30; 182(6):1407-1420. PubMed ID: 32267100
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  • 11. Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II.
    Nguyen TH, Nguyen NL, Vu CD, Ngoc CTB, Nguyen NK, Nguyen HH.
    Genes Genomics; 2021 Feb 30; 43(2):115-121. PubMed ID: 33460028
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  • 17. Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.
    Abdel-Salam GM, Abdel-Hamid MS, Hassan NA, Issa MY, Effat L, Ismail S, Aglan MS, Zaki MS.
    Am J Med Genet A; 2013 Aug 30; 161A(8):1875-81. PubMed ID: 23794361
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  • 20. A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.
    Liu H, Tao N, Wang Y, Yang Y, He X, Zhang Y, Zhou Y, Liu X, Feng X, Sun M, Xu F, Su Y, Li L.
    Mol Genet Genomic Med; 2021 Sep 30; 9(9):e1761. PubMed ID: 34331829
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