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Journal Abstract Search

118 related items for PubMed ID: 15103724

  • 1. Patterson-Lowry rhizomelic dysplasia: report of two new patients.
    Franceschini P, Licata D, Guala A, Ingrosso G, Di Cara G, Franceschini D.
    Am J Med Genet A; 2004 May 15; 127A(1):86-92. PubMed ID: 15103724
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  • 3. Further delineation of Raine syndrome.
    Al-Gazali LI, Jehier K, Nazih B, Abtin F, Haas D, Sadagahatian R.
    Clin Dysmorphol; 2003 Apr 15; 12(2):89-93. PubMed ID: 12868469
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  • 4. A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.
    Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, Narumi Y, Alanay Y, Unger S, Cho TJ, Park SS, Ikegawa S, Meinecke P, Superti-Furga A.
    Am J Med Genet A; 2010 Apr 15; 152A(4):875-85. PubMed ID: 20358597
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  • 5. Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: expanded spectrum of Lowry-Wood syndrome?
    Hankenson LG, Ozonoff MB, Cassidy SB.
    Am J Med Genet; 1989 Jul 15; 33(3):336-40. PubMed ID: 2801767
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  • 6. Micromelic dwarfism--humerus, femur and tibia type.
    Al-Gazali LI, Bakir M, Hamid Z, Nath D, Haas D.
    Clin Dysmorphol; 2001 Jan 15; 10(1):24-8. PubMed ID: 11152143
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  • 11. Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.
    Ain NU, Baroncelli M, Costantini A, Ishaq T, Taylan F, Nilsson O, Mäkitie O, Naz S.
    J Med Genet; 2021 May 15; 58(5):351-356. PubMed ID: 32591345
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  • 13. Tibial/femoral hypoplasia with "hook" pelvis: a potentially unique dysostosis.
    Mégarbané A, Ghanem I.
    Am J Med Genet; 2002 Nov 01; 112(4):394-6. PubMed ID: 12376943
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  • 14. [Melnick-Needles syndrome].
    Leiber B, Hövels O.
    Monatsschr Kinderheilkd (1902); 1975 Apr 01; 123(4):178-82. PubMed ID: 1152848
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  • 15. Gollop-Wolfgang syndrome.
    Dhanakodi N, Tripathy SK.
    Indian J Med Res; 2014 Jun 01; 139(6):963-4. PubMed ID: 25109738
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  • 17. [Dysplasia spondylometa-epiphysaria congenita and dysplasia spondyloepiphysaria congenita with brachymetacarpia and -tarsia. Contribution to the differential diagnosis of dysplasia spondyloepiphysaria congenita].
    Kozlowski K, Filipiak-Miastkowska I, Narebska E, Nowicki S, Chylinska H.
    Fortschr Geb Rontgenstr Nuklearmed; 1971 Jun 01; 114(6):824-32. PubMed ID: 4996359
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  • 18. Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia.
    Sillence DO, Lachman RS, Jenkins T, Riccardi VM, Rimoin DL.
    Am J Med Genet; 1982 Sep 01; 13(1):7-14. PubMed ID: 6753583
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  • 19. Frontometaphyseal dysplasia.
    Holt JF, Thompson GR, Arenberg IK.
    Radiol Clin North Am; 1972 Aug 01; 10(2):225-43. PubMed ID: 5044403
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  • 20. Treatment of proximal humeral dysplasia epiphysealis hemimelica with custom hemiarthroplasty: a case report.
    Braman JP, Stewart TM.
    J Shoulder Elbow Surg; 2011 Dec 01; 20(8):e1-3. PubMed ID: 22078324
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