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Journal Abstract Search

189 related items for PubMed ID: 9674905

  • 21. Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications.
    Bonthuis D, Morava E, Booij LH, Driessen JJ.
    Paediatr Anaesth; 2009 Mar; 19(3):212-7. PubMed ID: 19207241
    [Abstract] [Full Text] [Related]

  • 22. Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.
    Romeo Bertola D, Honjo RS, Baratela WA.
    Mol Syndromol; 2016 Apr; 7(1):12-8. PubMed ID: 27194968
    [Abstract] [Full Text] [Related]

  • 23. One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with stuve-wiedemann syndrome.
    Koul R, Al-Kindy A, Mani R, Sankhla D, Al-Futaisi A.
    Sultan Qaboos Univ Med J; 2013 May; 13(2):301-5. PubMed ID: 23862038
    [Abstract] [Full Text] [Related]

  • 24. [Schwartz-Jampel syndrome type 2 versus Stüve-Wiedemann syndrome].
    Navarrete Faubel FE, Pérez Aytés A, Pastor Rosado J, Mascarell Gregoria A.
    An Esp Pediatr; 2002 May; 56(5):473-4. PubMed ID: 12042125
    [No Abstract] [Full Text] [Related]

  • 25. Stüve-Wiedemann syndrome with multiple eruptive vellus hair cysts and clefted tongue.
    Lobato-Berezo A, Tormo-Mainar S, Pujol RM.
    Pediatr Dermatol; 2020 Mar; 37(2):381-382. PubMed ID: 31975458
    [Abstract] [Full Text] [Related]

  • 26. Fibrochondrogenesis: clinical and radiological features.
    al-Gazali LI, Bakalinova D, Bakir M, Dawodu A.
    Clin Dysmorphol; 1997 Apr; 6(2):157-63. PubMed ID: 9134297
    [Abstract] [Full Text] [Related]

  • 27. Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.
    Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourlière B, Ayme S, Philip N.
    Am J Med Genet; 1998 Oct 30; 80(1):16-24. PubMed ID: 9800907
    [Abstract] [Full Text] [Related]

  • 28. Characterization of a long-term survivor with Stüve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome.
    Chen E, Cotter PD, Cohen RA, Lachman RS.
    Am J Med Genet; 2001 Jul 01; 101(3):240-5. PubMed ID: 11424139
    [Abstract] [Full Text] [Related]

  • 29. Stüve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway.
    Van De Maele K, Smulders C, Ecury-Goossen G, Rosina-Angelista I, Redeker E, van Haelst M.
    Clin Dysmorphol; 2019 Apr 01; 28(2):57-62. PubMed ID: 30614825
    [Abstract] [Full Text] [Related]

  • 30. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease.
    Spranger J, Hall BD, Häne B, Srivastava A, Stevenson RE.
    Am J Med Genet; 2000 Oct 02; 94(4):287-95. PubMed ID: 11038441
    [Abstract] [Full Text] [Related]

  • 31. Jansen's metaphyseal chondrodysplasia.
    Sood A, Sama D, Sharma R, Rastogi S.
    Indian Pediatr; 2000 Apr 02; 37(4):435-40. PubMed ID: 10781242
    [No Abstract] [Full Text] [Related]

  • 32. Identical twins with the classical form of Schwartz-Jampel syndrome.
    Pinto-Escalante D, Ceballos-Quintal JM, Canto-Herrera J.
    Clin Dysmorphol; 1997 Jan 02; 6(1):45-9. PubMed ID: 9018418
    [Abstract] [Full Text] [Related]

  • 33. Dyssegmental dysplasia Silverman-Handmaker type in a consanguineous Druze Lebanese family: long term survival and documentation of the natural history.
    Prabhu VG, Kozma C, Leftridge CA, Helmbrecht GD, France ML.
    Am J Med Genet; 1998 Jan 13; 75(2):164-70. PubMed ID: 9450878
    [Abstract] [Full Text] [Related]

  • 34. Schwartz-Jampel syndrome: three pediatric case reports.
    Yapicioğlu H, Satar M, Yildizdaş D, Narli N, Suleymanova D, Tutak E.
    Genet Couns; 2003 Jan 13; 14(3):353-8. PubMed ID: 14577682
    [Abstract] [Full Text] [Related]

  • 35. Stüve-Wiedemann syndrome in a neonate.
    Sarafidis K, Piretzi K, Agakidou E, Kohlhase J, Zafeiriou D.
    Pediatr Int; 2015 Apr 13; 57(2):302-4. PubMed ID: 25868946
    [Abstract] [Full Text] [Related]

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  • 37. Schwartz-Jampel syndrome: an atypical form?
    Figuera LE, Jimenez-Gil FJ, García-Cruz MO, Cantú JM.
    Am J Med Genet; 1993 Sep 15; 47(4):526-8. PubMed ID: 8256816
    [Abstract] [Full Text] [Related]

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  • 39. Stüve-Wiedemann syndrome and related bent bone dysplasias.
    Akawi NA, Ali BR, Al-Gazali L.
    Clin Genet; 2012 Jul 15; 82(1):12-21. PubMed ID: 22300393
    [Abstract] [Full Text] [Related]

  • 40. Congenital bowing of the long bones associated with camptodactyly, talipes equinovarus and agenesis of the corpus callosum.
    Al-Gazali LI, Bakir M, Hamid ZM, Nath R, Haas D.
    Clin Dysmorphol; 2000 Apr 15; 9(2):93-7. PubMed ID: 10826618
    [Abstract] [Full Text] [Related]

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