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Orphanet Journal of Rare Diseases - Latest articles

Статьи последних нескольких выпусков журнала Orphanet Journal of Rare Diseases - Latest articles
  • Transposition of the great arteries
    Orphanet Journal of Rare Diseases, Vol. 3 (13 October 2008), 27.
    by Paula Martins, Eduardo Castela
  • Centronuclear (myotubular) myopathy
    Orphanet Journal of Rare Diseases, Vol. 3 (25 September 2008), 26.
    by Heinz Jungbluth, Carina Wallgren-Pettersson, Jocelyn Laporte
    posted by 1 person Terkko
  • Mixed cryoglobulinemia
    Orphanet Journal of Rare Diseases, Vol. 3 (16 September 2008), 25.
    by Clodoveo Ferri
  • The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK.
    Orphanet Journal of Rare Diseases, Vol. 3 (16 September 2008), 24.
    by David Moore, Martin J Connock, Ed Wraith, Christine Lavery
  • Monitoring clinical quality in rare disease services - experience in England
    Orphanet Journal of Rare Diseases, Vol. 3 (15 September 2008), 23.
    by Thomas D Kenny, Edmund G Jessop, William H Gutteridge
  • Gitelman syndrome
    Orphanet Journal of Rare Diseases, Vol. 3 (30 July 2008), 22.
    by Nine VAM Knoers, Elena N Levtchenko
  • Alpha-mannosidosis
    Orphanet Journal of Rare Diseases, Vol. 3 (23 July 2008), 21.
    by Dag Malm, Oivind Nilssen
  • Cluster headache
    Orphanet Journal of Rare Diseases, Vol. 3 (23 July 2008), 20.
    by Elizabeth Leroux, Anne Ducros
  • Abetalipoproteinemia: two case reports and a literature review
    Orphanet Journal of Rare Diseases, Vol. 3 (08 July 2008), 19.
    by Rola Zamel, Razi Khan, Rebecca L Pollex, Robert A Hegele
  • Congenital long QT syndrome
    Orphanet Journal of Rare Diseases, Vol. 3 (07 July 2008), 18.
    by Lia Crotti, Giuseppe Celano, Federica Dagradi, Peter J Schwartz
  • Acromegaly
    Orphanet Journal of Rare Diseases, Vol. 3 (25 June 2008), 17.
    by Philippe Chanson, Sylvie Salenave
  • Hereditary alpha-1-antitrypsin deficiency and its clinical consequences
    Orphanet Journal of Rare Diseases, Vol. 3 (19 June 2008), 16.
    by Laura Fregonese, Jan Stolk
  • Brachydactyly
    Orphanet Journal of Rare Diseases, Vol. 3 (13 June 2008), 15.
    by Samia A Temtamy, Mona S Aglan
  • Deletion 22q13.3 syndrome
    Orphanet Journal of Rare Diseases, Vol. 3 (27 May 2008), 14.
    by Mary C Phelan
  • LEOPARD syndrome
    Orphanet Journal of Rare Diseases, Vol. 3 (27 May 2008), 13.
    by Anna Sarkozy, Maria C Digilio, Bruno Dallapiccola
  • McCune-Albright syndrome
    Orphanet Journal of Rare Diseases, Vol. 3 (19 May 2008), 12.
    by Claudia E Dumitrescu, Michael T Collins
  • Adaptive design methods in clinical trials - a review
    Orphanet Journal of Rare Diseases, Vol. 3 (02 May 2008), 11.
    by Shein-Chung Chow, Mark Chang
  • The Greig cephalopolysyndactyly syndrome
    Orphanet Journal of Rare Diseases, Vol. 3 (24 April 2008), 10.
    by Leslie G Biesecker
  • Brown-Vialetto-Van Laere syndrome
    Orphanet Journal of Rare Diseases, Vol. 3 (17 April 2008), 9.
    by Sivakumar Sathasivam
  • Idiopathic pulmonary fibrosis
    Orphanet Journal of Rare Diseases, Vol. 3 (26 March 2008), 8.
    by Eric B Meltzer, Paul W Noble
  • Hereditary sensory neuropathy type I
    Orphanet Journal of Rare Diseases, Vol. 3 (18 March 2008), 7.
    by Michaela Auer-Grumbach
  • Syndromic (phenotypic) diarrhea in early infancy
    Orphanet Journal of Rare Diseases, Vol. 3 (28 February 2008), 6.
    by Olivier Goulet, Christine Vinson, Bertrand Roquelaure, Nicole Brousse, Christine Bodemer, Jean-Pierre Cezard
  • Primary intestinal lymphangiectasia (Waldmann's disease)
    Orphanet Journal of Rare Diseases, Vol. 3 (22 February 2008), 5.
    by Stephane Vignes, Jerome Bellanger
  • Monosomy 18p
    Orphanet Journal of Rare Diseases, Vol. 3 (19 February 2008), 4.
    by Catherine Turleau
  • Multiple osteochondromas
    Orphanet Journal of Rare Diseases, Vol. 3 (13 February 2008), 3.
    by Judith VMG Bovee
  • Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?
    Orphanet Journal of Rare Diseases, Vol. 3 (30 January 2008), 2.
    by Virginie Levrat, Isabelle Forest, Alain Fouilhoux, Cecile Acquaviva, Christine Vianey-Saban, Nathalie Guffon
  • Primary biliary cirrhosis
    Orphanet Journal of Rare Diseases, Vol. 3 (23 January 2008), 1.
    by Teru Kumagi, Jenny E Heathcote
  • Alstrom syndrome (OMIM 203800): a case report and literature review
    Orphanet Journal of Rare Diseases, Vol. 2 (21 December 2007), 49.
    by Tisha Joy, Henian Cao, Graeme Black, Rayaz Malik, Valentine Charlton-Menys, Robert A Hegele, Paul N Durrington
  • Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Lesch-Nyhan Syndrome
    Orphanet Journal of Rare Diseases, Vol. 2 (08 December 2007), 48.
    by Rosa J Torres, Juan G Puig
    posted by 2 people jyuh omalbam
  • Anophthalmia and microphthalmia
    Orphanet Journal of Rare Diseases, Vol. 2 (26 November 2007), 47.
    by Amit S Verma, David R Fitzpatrick
  • Sarcoidosis
    Orphanet Journal of Rare Diseases, Vol. 2 (19 November 2007), 46.
    by Hilario Nunes, Diane Bouvry, Paul Soler, Dominique Valeyre
  • Arrhythmogenic right ventricular cardiomyopathy/dysplasia
    Orphanet Journal of Rare Diseases, Vol. 2 (14 November 2007), 45.
    by Gaetano Thiene, Domenico Corrado, Cristina Basso
  • Myasthenia gravis
    Orphanet Journal of Rare Diseases, Vol. 2 (06 November 2007), 44.
    by Vern C Juel, Janice M Massey
  • Oculocutaneous albinism
    Orphanet Journal of Rare Diseases, Vol. 2 (02 November 2007), 43.
    by Karen Gronskov, Jakob Ek, Karen Brondum-Nielsen
  • Mowat-Wilson syndrome
    Orphanet Journal of Rare Diseases, Vol. 2 (24 October 2007), 42.
    by Livia Garavelli, Paola C Mainardi
  • Aorto-ventricular tunnel
    Orphanet Journal of Rare Diseases, Vol. 2 (08 October 2007), 41.
    by Roxane Mckay
  • Hypophosphatasia
    Orphanet Journal of Rare Diseases, Vol. 2 (04 October 2007), 40.
    by Etienne Mornet
  • Hereditary sensory and autonomic neuropathies: types II, III, and IV
    Orphanet Journal of Rare Diseases, Vol. 2 (03 October 2007), 39.
    by Felicia B Axelrod, Gabrielle G Simson
  • Idiopathic (primary) achalasia
    Orphanet Journal of Rare Diseases, Vol. 2 (26 September 2007), 38.
    by Farnoosh Farrokhi, Michael F Vaezi
  • Hypereosinophilic syndromes
    Orphanet Journal of Rare Diseases, Vol. 2 (11 September 2007), 37.
    by Florence E Roufosse, Michel Goldman, Elie Cogan
  • Sotos syndrome
    Orphanet Journal of Rare Diseases, Vol. 2 (07 September 2007), 36.
    by Genevieve Baujat, Valerie Cormier-Daire
  • Acute graft versus host disease
    Orphanet Journal of Rare Diseases, Vol. 2 (04 September 2007), 35.
    by David A Jacobsohn, Georgia B Vogelsang
  • Sweet's syndrome - a comprehensive review of an acute febrile neutrophilic dermatosis
    Orphanet Journal of Rare Diseases, Vol. 2 (26 July 2007), 34.
    by Philip R Cohen
  • Anorectal malformations
    Orphanet Journal of Rare Diseases, Vol. 2 (26 July 2007), 33.
    by Marc A Levitt, Alberto Pena
  • Ehlers-Danlos syndrome type IV
    Orphanet Journal of Rare Diseases, Vol. 2 (19 July 2007), 32.
    by Dominique P Germain
  • Multi-minicore Disease
    Orphanet Journal of Rare Diseases, Vol. 2 (13 July 2007), 31.
    by Heinz Jungbluth
  • Loss-of-function genetic diseases and the concept of pharmaceutical targets
    Orphanet Journal of Rare Diseases, Vol. 2 (02 July 2007), 30.
    by Laurent Segalat
  • Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene
    Orphanet Journal of Rare Diseases, Vol. 2 (11 June 2007), 29.
    by Olivier Rosmorduc, Raoul Poupon
  • Fibromuscular dysplasia
    Orphanet Journal of Rare Diseases, Vol. 2 (07 June 2007), 28.
    by Pierre-Francois Plouin, Jerome Perdu, Agnes La Batide-Alanore, Pierre Boutouyrie, Anne-Paule Gimenez-Roqueplo, Xavier Jeunemaitre
  • Ellis-Van Creveld syndrome
    Orphanet Journal of Rare Diseases, Vol. 2 (04 June 2007), 27.
    by Genevieve Baujat, Martine Le Merrer
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