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	1. 2520 Accesses	Review Toxic epidermal necrolysis and Stevens-Johnson syndrome Thomas Harr, Lars E French Orphanet Journal of Rare Diseases 2010, 5:39 (16 December 2010) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	2. 2481 Accesses	Review Beta-thalassemia Renzo Galanello, Raffaella Origa Orphanet Journal of Rare Diseases 2010, 5:11 (21 May 2010) Abstract \| Full text \| PDF \| PubMed
	3. 1754 Accesses	Review Amyotrophic lateral sclerosis Lokesh C Wijesekera, P Nigel Leigh Orphanet Journal of Rare Diseases 2009, 4:3 (3 February 2009) Abstract \| Full text \| PDF \| PubMed
	4. 1545 Accesses	Review Congenital hypothyroidism Maynika V Rastogi, Stephen H LaFranchi Orphanet Journal of Rare Diseases 2010, 5:17 (10 June 2010) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	5. 1436 Accesses	Research Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations Marco Ritelli, Chiara Dordoni, Marina Venturini, Nicola Chiarelli, Stefano Quinzani, Michele Traversa, Nicoletta Zoppi, Annalisa Vascellaro, Anita Wischmeijer, Emanuela Manfredini, Livia Garavelli, Piergiacomo Calzavara-Pinton, Marina Colombi Orphanet Journal of Rare Diseases 2013, 8:58 (12 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	6. 1363 Accesses	Review Familial adenomatous polyposis Elizabeth Half, Dani Bercovich, Paul Rozen Orphanet Journal of Rare Diseases 2009, 4:22 (12 October 2009) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	7. 1277 Accesses	Research Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy) Harumasa Nakamura, En Kimura, Madoka Mori-Yoshimura, Hirofumi Komaki, Yu Matsuda, Kanako Goto, Yukiko K Hayashi, Ichizo Nishino, Shin‘ichi Takeda, Mitsuru Kawai Orphanet Journal of Rare Diseases 2013, 8:60 (19 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	8. 1251 Accesses	Review Atypical hemolytic uremic syndrome Chantal Loirat, Véronique Frémeaux-Bacchi Orphanet Journal of Rare Diseases 2011, 6:60 (8 September 2011) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	9. 1222 Accesses	Review McCune-Albright syndrome Claudia E Dumitrescu, Michael T Collins Orphanet Journal of Rare Diseases 2008, 3:12 (19 May 2008) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	10. 1201 Accesses	Review Sweet's syndrome – a comprehensive review of an acute febrile neutrophilic dermatosis Philip R Cohen Orphanet Journal of Rare Diseases 2007, 2:34 (26 July 2007) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	11. 1192 Accesses	Review Amelogenesis imperfecta Peter JM Crawford, Michael Aldred, Agnes Bloch-Zupan Orphanet Journal of Rare Diseases 2007, 2:17 (4 April 2007) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	12. 1156 Accesses	Review A review of trisomy X (47,XXX) Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson, Lennie Wilson Orphanet Journal of Rare Diseases 2010, 5:8 (11 May 2010) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	13. 1127 Accesses	Review Hereditary alpha-1-antitrypsin deficiency and its clinical consequences Laura Fregonese, Jan Stolk Orphanet Journal of Rare Diseases 2008, 3:16 (19 June 2008) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	14. 1123 Accesses	Review Anorectal malformations Marc A Levitt, Alberto Peña Orphanet Journal of Rare Diseases 2007, 2:33 (26 July 2007) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| 1 comment
	15. 1115 Accesses	Review Cri du Chat syndrome Paola Cerruti Mainardi Orphanet Journal of Rare Diseases 2006, 1:33 (5 September 2006) Abstract \| Full text \| PDF \| PubMed
	16. 1070 Accesses	Review Congenital Diaphragmatic Hernia Juan A Tovar Orphanet Journal of Rare Diseases 2012, 7:1 (3 January 2012) Abstract \| Full text \| PDF \| PubMed
	17. 1059 Accesses	Research The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Sarah M Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L Hood, Oana Caluseriu, Jane Hurst, Usha Kini, Malgorzata J Nowaczyk, Alexandra Afenjar, Beate Albrecht, Judith E Allanson, Paolo Balestri, Tawfeg Ben-Omran, Francesco Brancati, Isabel Cordeiro, Bruna Santos da Cunha, Louisa A Delaney, Anne Destrée, David Fitzpatrick, Francesca Forzano, Neeti Ghali, Greta Gillies, Katerina Harwood, Yvonne M Hendriks, Delphine Héron, Alexander Hoischen, Engela Magdalena Honey, Lies H Hoefsloot, Jennifer Ibrahim et al. Orphanet Journal of Rare Diseases 2013, 8:63 (27 April 2013) Abstract \| Provisional PDF \| PubMed
	18. 1050 Accesses	Review Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia Martin J Barron, Sinead T McDonnell, Iain MacKie, Michael J Dixon Orphanet Journal of Rare Diseases 2008, 3:31 (20 November 2008) Abstract \| Full text \| PDF \| PubMed
	19. 1053 Accesses	Review Interstitial lung diseases in children Annick Clement, Nadia Nathan, Ralph Epaud, Brigitte Fauroux, Harriet Corvol Orphanet Journal of Rare Diseases 2010, 5:22 (20 August 2010) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	20. 1039 Accesses	Research Prioritization of therapy uncertainties in Dystrophic Epidermolysis Bullosa: where should research direct to? an example of priority setting partnership in very rare disorders Paula Davila-Seijo, Angela Hernández-Martín, Evanina Morcillo-Makow, Raúl de Lucas, Esther Domínguez, Natividad Romero, Eva Monrós, Marta Feito, Luis Carretero, Bea Aranegui, Ignacio García-Doval Orphanet Journal of Rare Diseases 2013, 8:61 (22 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	21. 1034 Accesses	Review α-thalassaemia Cornelis L Harteveld, Douglas R Higgs Orphanet Journal of Rare Diseases 2010, 5:13 (28 May 2010) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	22. 1023 Accesses	Review Huntington's disease: a clinical review Raymund AC Roos Orphanet Journal of Rare Diseases 2010, 5:40 (20 December 2010) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	23. 1010 Accesses	Review VACTERL/VATER Association Benjamin D Solomon Orphanet Journal of Rare Diseases 2011, 6:56 (16 August 2011) Abstract \| Full text \| PDF \| PubMed
	24. 974 Accesses	Review Fabry disease Dominique P Germain Orphanet Journal of Rare Diseases 2010, 5:30 (22 November 2010) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	25. 965 Accesses	Research Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant Laura Melchionda, Mingyan Fang, Hairong Wang, Valeria Fugnanesi, Michela Morbin, Xuanzhu Liu, Wenyan Li, Isabella Ceccherini, Laura Farina, Mario Savoiardo, Pio D’Adamo, Jianguo Zhang, Alfredo Costa, Sabrina Ravaglia, Daniele Ghezzi, Massimo Zeviani Orphanet Journal of Rare Diseases 2013, 8:66 (1 May 2013) Abstract \| Full text \| PDF \| PubMed