Orphanet Journal of Rare Diseases | Most Viewed | Last 30 days

Orphanet Journal of Rare Diseases | Most Viewed | Last 30 days

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1. 2489 Accesses	Review     A review of trisomy X (47,XXX) Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson, Lennie WilsonOrphanet Journal of Rare Diseases 2010, 5:8 (11 May 2010) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
2. 2126 Accesses	Review     Beta-thalassemia Renzo Galanello, Raffaella OrigaOrphanet Journal of Rare Diseases 2010, 5:11 (21 May 2010) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
3. 2108 Accesses	Review     Toxic epidermal necrolysis and Stevens-Johnson syndrome Thomas Harr, Lars E FrenchOrphanet Journal of Rare Diseases 2010, 5:39 (16 December 2010) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
4. 1781 Accesses	Review     Amyotrophic lateral sclerosis Lokesh C Wijesekera, P Nigel LeighOrphanet Journal of Rare Diseases 2009, 4:3 (3 February 2009) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
5. 1621 Accesses	Review     Suggested guidelines for the diagnosis and management of urea cycle disorders Johannes Häberle, Nathalie Boddaert, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Martina Huemer, Daniela Karall, Diego Martinelli, Pablo Crespo, René Santer, Aude Servais, Vassili Valayannopoulos, Martin Lindner, Vicente Rubio, Carlo Dionisi-ViciOrphanet Journal of Rare Diseases 2012, 7:32 (29 May 2012) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
6. 1590 Accesses	Review     Huntington's disease: a clinical review Raymund AC RoosOrphanet Journal of Rare Diseases 2010, 5:40 (20 December 2010) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
7. 1474 Accesses	Review     Congenital hypothyroidism Maynika V Rastogi, Stephen H LaFranchiOrphanet Journal of Rare Diseases 2010, 5:17 (10 June 2010) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
8. 1411 Accesses	Review     The trisomy 18 syndrome Anna Cereda, John C CareyOrphanet Journal of Rare Diseases 2012, 7:81 (23 October 2012) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
9. 1386 Accesses	Review     Fabry disease Dominique P GermainOrphanet Journal of Rare Diseases 2010, 5:30 (22 November 2010) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
10. 1301 Accesses	Review     Cri du Chat syndrome Paola Cerruti MainardiOrphanet Journal of Rare Diseases 2006, 1:33 (5 September 2006) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
11. 1271 Accesses	Review     Sweet's syndrome – a comprehensive review of an acute febrile neutrophilic dermatosis Philip R CohenOrphanet Journal of Rare Diseases 2007, 2:34 (26 July 2007) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
12. 1240 Accesses	Review     VACTERL/VATER Association Benjamin D SolomonOrphanet Journal of Rare Diseases 2011, 6:56 (16 August 2011) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
13. 1202 Accesses	Review     Spinal muscular atrophy Adele D'Amico, Eugenio Mercuri, Francesco D Tiziano, Enrico BertiniOrphanet Journal of Rare Diseases 2011, 6:71 (2 November 2011) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
14. 1151 Accesses	Research    Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex Eiko Nagata, Hiroki Kano, Fumiko Kato, Rie Yamaguchi, Shinichi Nakashima, Shinichiro Takayama, Rika Kosaki, Hidefumi Tonoki, Seiji Mizuno, Satoshi Watanabe, Koh-ichiro Yoshiura, Tomoki Kosho, Tomonobu Hasegawa, Mamori Kimizuka, Atsushi Suzuki, Kenji Shimizu, Hirofumi Ohashi, Nobuhiko Haga, Hironao Numabe, Emiko Horii, Toshiro Nagai, Hiroshi Yoshihashi, Gen Nishimura, Tatsushi Toda, Shuji Takada, Shigetoshi Yokoyama, Hiroshi Asahara, Shinichiro Sano, Maki Fukami, Shiro Ikegawa, Tsutomu Ogata et al.Orphanet Journal of Rare Diseases 2014, 9:125 (21 October 2014) Abstract | Full text | PDF | ePUB | PubMed
15. 1148 Accesses	Research    Holt Oram syndrome: a registry-based study in Europe Ingeborg Barisic, Ljubica Boban, Ruth Greenlees, Ester Garne, Diana Wellesley, Elisa Calzolari, Marie-Claude Addor, Larraitz Arriola, Jorieke Bergman, Paula Braz, Judith Budd, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Bob McDonnell, Vera Nelen, Anna Pierini, Annette Queisser-Wahrendorf, Judith Rankin, Anke Rissmann, Catherine Rounding, David Tucker, Christine Verellen-Dumoulin, Helen DolkOrphanet Journal of Rare Diseases 2014, 9:156 (25 October 2014) Abstract | Full text | PDF | ePUB
16. 1062 Accesses	Review     Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) Thomas Wiesmann, Marco Castori, Fransiska Malfait, Hinnerk WulfOrphanet Journal of Rare Diseases 2014, 9:109 (23 July 2014) Abstract | Full text | PDF
17. 1044 Accesses	Review     Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects Robert J Pignolo, Eileen M Shore, Frederick S KaplanOrphanet Journal of Rare Diseases 2011, 6:80 (1 December 2011) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
18. 1016 Accesses	Review     Congenital neutropenia: diagnosis, molecular bases and patient management Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Nizar Mahlaoui, Christine ChantelotOrphanet Journal of Rare Diseases 2011, 6:26 (19 May 2011) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
19. 1004 Accesses	Review     The Exstrophy-epispadias complex Anne-Karoline Ebert, Heiko Reutter, Michael Ludwig, Wolfgang H RöschOrphanet Journal of Rare Diseases 2009, 4:23 (30 October 2009) Abstract | Full text | PDF | PubMed
20. 995 Accesses	Review     A rare bladder cancer - small cell carcinoma: review and update Nabil IsmailiOrphanet Journal of Rare Diseases 2011, 6:75 (13 November 2011) Abstract | Full text | PDF | PubMed
21. 971 Accesses	Review     Retinitis pigmentosa Christian HamelOrphanet Journal of Rare Diseases 2006, 1:40 (11 October 2006) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
22. 956 Accesses	Review     Congenital hyperinsulinism: current trends in diagnosis and therapy Jean-Baptiste Arnoux, Virginie Verkarre, Cécile Saint-Martin, Françoise Montravers, Anaïs Brassier, Vassili Valayannopoulos, Francis Brunelle, Jean-Christophe Fournet, Jean-Jacques Robert, Yves Aigrain, Christine Bellanné-Chantelot, Pascale de LonlayOrphanet Journal of Rare Diseases 2011, 6:63 (3 October 2011) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
23. 962 Accesses	Review     Familial adenomatous polyposis Elizabeth Half, Dani Bercovich, Paul RozenOrphanet Journal of Rare Diseases 2009, 4:22 (12 October 2009) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
24. 956 Accesses	Review     Amelogenesis imperfecta Peter JM Crawford, Michael Aldred, Agnes Bloch-ZupanOrphanet Journal of Rare Diseases 2007, 2:17 (4 April 2007) Abstract | Full text | PDF | PubMed | Cited on BioMed Central
25. 957 Accesses	Review     α-thalassaemia Cornelis L Harteveld, Douglas R HiggsOrphanet Journal of Rare Diseases 2010, 5:13 (28 May 2010) Abstract | Full text | PDF | PubMed | Cited on BioMed Central