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Journal Abstract Search

81 related items for PubMed ID: 9339123

  • 1. A case of brachyolmia.
    Karabiyik N, Oğuz F, Sidal M, Hekim N, Kayserili H.
    Turk J Pediatr; 1997; 39(3):415-20. PubMed ID: 9339123
    [Abstract] [Full Text] [Related]

  • 2. Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?
    Tüysüz B, Ungür S.
    Am J Med Genet A; 2003 Jun 15; 119A(3):375-80. PubMed ID: 12784309
    [Abstract] [Full Text] [Related]

  • 3. Brachyolmia: radiographic and genetic evidence of heterogeneity.
    Shohat M, Lachman R, Gruber HE, Rimoin DL.
    Am J Med Genet; 1989 Jun 15; 33(2):209-19. PubMed ID: 2669482
    [Abstract] [Full Text] [Related]

  • 4. PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
    Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P, Deciphering Developmental Disorders StudyWellcome Sanger Institute, Cambridge, UK., Smithson S.
    Am J Med Genet A; 2019 Sep 15; 179(9):1884-1894. PubMed ID: 31313512
    [Abstract] [Full Text] [Related]

  • 5. Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
    Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S.
    Hum Mutat; 2013 Oct 15; 34(10):1381-6. PubMed ID: 23824674
    [Abstract] [Full Text] [Related]

  • 6. Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion.
    Sewell AC, Wern C, Pontz BF.
    Clin Genet; 1991 Oct 15; 40(4):312-7. PubMed ID: 1836753
    [Abstract] [Full Text] [Related]

  • 7. Familial brachyolmia.
    Darcan S, Yalman O, Coker M, Demir N, Ozkinay F.
    J Pediatr Endocrinol Metab; 2000 Oct 15; 13(7):955-8. PubMed ID: 10968486
    [Abstract] [Full Text] [Related]

  • 8. Two sibs with brachyolmia type Hobaek: five year follow-up through puberty.
    Hoo JJ, Oliphant M.
    Am J Med Genet A; 2003 Jan 01; 116A(1):80-4. PubMed ID: 12476457
    [Abstract] [Full Text] [Related]

  • 9. Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness.
    Umpaichitra V, Wallerstein R, Castells S.
    Clin Dysmorphol; 2002 Jan 01; 11(1):53-6. PubMed ID: 11822706
    [Abstract] [Full Text] [Related]

  • 10. Brachyolmia: an autosomal dominant form.
    Gardner J, Beighton P.
    Am J Med Genet; 1994 Feb 01; 49(3):308-12. PubMed ID: 8209891
    [Abstract] [Full Text] [Related]

  • 11. Brachyolmia and spinal stenosis.
    Mukamel M, Karmazyn B, de Vries L, Horev G, Shohat M.
    Am J Med Genet A; 2003 Jul 15; 120A(2):272-5. PubMed ID: 12833413
    [Abstract] [Full Text] [Related]

  • 12. Brachyolmia: a report of two cases.
    Ikegawa S, Nakamura K, Nakamura S, Nagano A.
    J Pediatr Orthop; 1995 Jul 15; 15(1):105-7. PubMed ID: 7883917
    [Abstract] [Full Text] [Related]

  • 13. Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.
    Ahmad M, Faiyaz Ul Haque M, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DH.
    Am J Med Genet; 1998 Aug 06; 78(5):468-73. PubMed ID: 9714015
    [Abstract] [Full Text] [Related]

  • 14. Toledo type brachyolmia.
    Grain L, Duke O, Thompson G, Davies EG.
    Arch Dis Child; 1994 Nov 06; 71(5):448-9. PubMed ID: 7826119
    [Abstract] [Full Text] [Related]

  • 15. A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.
    Shalev SA, Spiegel R, Borochowitz ZU.
    Eur J Med Genet; 2012 Apr 06; 55(4):256-64. PubMed ID: 22440536
    [Abstract] [Full Text] [Related]

  • 16. A new case of the osteodysplastic primordial dwarfism type II.
    Willems PJ, Rouwé C, Smit GP.
    Am J Med Genet; 1987 Apr 06; 26(4):819-24. PubMed ID: 3591824
    [Abstract] [Full Text] [Related]

  • 17. Familial congenital micromelic dysplasia with dislocation of radius and distinct face: a new skeletal dysplasia syndrome.
    Borochowitz Z, Barak M, Hershkowitz S.
    Am J Med Genet; 1991 Apr 01; 39(1):91-6. PubMed ID: 1867270
    [Abstract] [Full Text] [Related]

  • 18. The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Report of 4 siblings.
    Fanconi S, Issler C, Giedion A, Prader A.
    Helv Paediatr Acta; 1983 Aug 01; 38(3):267-80. PubMed ID: 6618893
    [Abstract] [Full Text] [Related]

  • 19. Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.
    Demir K, Altıncık A, Böber E.
    J Pediatr Endocrinol Metab; 2013 Aug 01; 26(1-2):147-50. PubMed ID: 23457316
    [Abstract] [Full Text] [Related]

  • 20. [Acromesomelic dysplasia. Apropos of a new case].
    Stichelbout P, Pratz R, Lemaitre G, Wemeau-Jacquemont C, Maroteaux P, Fontaine G.
    Arch Fr Pediatr; 1984 Aug 01; 41(7):487-9. PubMed ID: 6497557
    [Abstract] [Full Text] [Related]

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