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Journal Abstract Search

86 related items for PubMed ID: 7883917

  • 21. Autosomal recessive brachyolmia: early radiological findings.
    Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G.
    Skeletal Radiol; 2016 Nov; 45(11):1557-60. PubMed ID: 27544198
    [Abstract] [Full Text] [Related]

  • 22. [A Dutch family with hereditary joint symptoms; multiple epiphyseal dysplasia].
    van Mourik JB, Schaap C, Nollen AJ.
    Ned Tijdschr Geneeskd; 1993 Jan 02; 137(1):32-6. PubMed ID: 8419840
    [Abstract] [Full Text] [Related]

  • 23. [Deformities and disorders of the cranio-vertebral region in systemic dysplasias of the osteo-articular apparatus].
    Zadvornov IuN.
    Ortop Travmatol Protez; 1977 Dec 02; (12):9-15. PubMed ID: 600507
    [No Abstract] [Full Text] [Related]

  • 24. Axial spondylometaphyseal dysplasia.
    Ehara S, Kim OH, Maisawa S, Takasago Y, Nishimura G.
    Eur J Pediatr; 1997 Aug 02; 156(8):627-30. PubMed ID: 9266195
    [Abstract] [Full Text] [Related]

  • 25. Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.
    Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, Åström E, Nordenskjöld M, Nordgren A, Mäkitie O.
    Am J Med Genet A; 2014 Jul 02; 164A(7):1635-41. PubMed ID: 24677493
    [Abstract] [Full Text] [Related]

  • 26. Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients.
    Nishimura G, Honma T, Shiihara T, Manabe N, Nakajima E, Adachi M, Mikawa M, Fukushima Y, Ikegawa S.
    Am J Med Genet A; 2003 Mar 01; 117A(2):147-53. PubMed ID: 12567412
    [Abstract] [Full Text] [Related]

  • 27. A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.
    Verloes A, Jamblin P, Koulischer L, Bourguignon JP.
    Clin Genet; 1996 Jan 01; 49(1):2-5. PubMed ID: 8721563
    [Abstract] [Full Text] [Related]

  • 28. Localised form of spondylo-epiphyseal dysplasia congenita.
    Hoeffel JC, Mohy R, Collignon P, Moog G.
    Rontgenblatter; 1988 Jan 01; 41(1):20-2. PubMed ID: 3353656
    [Abstract] [Full Text] [Related]

  • 29. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).
    Tsirikos AI, Mason DE, Scott CI, Chang WN.
    Am J Med Genet A; 2003 Jun 15; 119A(3):386-90. PubMed ID: 12784311
    [Abstract] [Full Text] [Related]

  • 30. Spondylo-metaphyseal dysplasia corner fracture type (a cautionary tale).
    Kozlowski K, Robben S, Bellemore M, Sillence D, Zonderland H.
    Radiol Med; 1993 Jun 15; 85(1-2):7-11. PubMed ID: 8480052
    [Abstract] [Full Text] [Related]

  • 31. [Changes in the cranio-cervical junction in Down's syndrome].
    Amato C, Moschini M, Cioni M, Bianco M.
    Radiol Med; 1990 Jun 15; 79(1-2):42-7. PubMed ID: 2138345
    [Abstract] [Full Text] [Related]

  • 32. Arthritis in children with multiple epiphyseal dysplasia.
    Patrone NA, Kredich DW.
    J Rheumatol; 1985 Feb 15; 12(1):145-9. PubMed ID: 3981501
    [Abstract] [Full Text] [Related]

  • 33. Spondyloenchondrodysplasia: a rare cause of short stature.
    Yeşiltepe-Mutlu G, Ozsu E, Cizmecioğlu FM, Alanay Y, Hatun S.
    Turk J Pediatr; 2011 Feb 15; 53(4):464-6. PubMed ID: 21980854
    [Abstract] [Full Text] [Related]

  • 34. Pseudo-achondroplastic variant of multiple epiphyseal dysplasia with cataract and vitiligo.
    Sharma P, Angra SK, Khurana A.
    Ann Ophthalmol; 1987 Feb 15; 19(2):56-9. PubMed ID: 3566024
    [Abstract] [Full Text] [Related]

  • 35. Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement.
    Fano V, Lejarraga H, Barreiro C.
    Pediatr Radiol; 2001 Jan 15; 31(1):19-22. PubMed ID: 11200991
    [Abstract] [Full Text] [Related]

  • 36. Spondyloepimetaphyseal dysplasia (SEMD) Shohat type.
    Figuera LE, Ramírez-Dueñas ML, Gallegos-Arreola MP, Cantú JM.
    Am J Med Genet; 1994 Jul 01; 51(3):213-5. PubMed ID: 8074146
    [Abstract] [Full Text] [Related]

  • 37. Early diagnosis of multiple epiphyseal dysplasia.
    Ingram RR.
    J Pediatr Orthop; 1992 Jul 01; 12(2):241-4. PubMed ID: 1552030
    [Abstract] [Full Text] [Related]

  • 38. Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study.
    Horton WA, Langer LO, Collins DL, Dwyer C.
    Am J Med Genet; 1983 Oct 01; 16(2):201-11. PubMed ID: 6650565
    [Abstract] [Full Text] [Related]

  • 39. Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients.
    Choo HJ, Cho TJ, Song J, Tiller GE, Lee SH, Park G, Lee IS, Lachman R, Superti-Furga A, Kim OH.
    Skeletal Radiol; 2012 Nov 01; 41(11):1479-87. PubMed ID: 22639207
    [Abstract] [Full Text] [Related]

  • 40. Dysplasia of C-1 and craniocervical instability in patients with Shprintzen-Goldberg syndrome. Case report and review of the literature.
    Jödicke A, Hahn A, Berthold LD, Scharbrodt W, Böker DK.
    J Neurosurg; 2006 Sep 01; 105(3 Suppl):238-41. PubMed ID: 16970241
    [Abstract] [Full Text] [Related]

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