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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)
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Review
Hereditary combined deficiency of the vitamin K-dependent clotting factors
Mariasanta Napolitano, Guglielmo Mariani, Mario Lapecorella
Orphanet Journal of Rare Diseases 2010, 5:21 (14 July 2010)
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Review
Joubert Syndrome and related disorders
Francesco Brancati, Bruno Dallapiccola, Enza Maria Valente
Orphanet Journal of Rare Diseases 2010, 5:20 (8 July 2010)
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Review
Silver-Russell syndrome: genetic basis and molecular genetic testing
Thomas Eggermann, Matthias Begemann, Gerhard Binder, Sabrina Spengler
Orphanet Journal of Rare Diseases 2010, 5:19 (23 June 2010)
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Case Report
Rituximab ameliorated severe hearing loss in Cogan's syndrome: a case report
Jelka G Orsoni, Bruno Laganà, Pierangela Rubino, Laura Zavota, Salvatore Bacciu, Paolo Mora
Orphanet Journal of Rare Diseases 2010, 5:18 (16 June 2010)
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Review
Congenital hypothyroidism
Maynika V Rastogi, Stephen H LaFranchi
Orphanet Journal of Rare Diseases 2010, 5:17 (10 June 2010)
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Review
Niemann-Pick disease type C
Marie T Vanier
Orphanet Journal of Rare Diseases 2010, 5:16 (3 June 2010)
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Research
Diagnosis and mortality in 47,XYY persons: a registry study
Kirstine Stochholm, Svend Juul, Claus H Gravholt
Orphanet Journal of Rare Diseases 2010, 5:15 (29 May 2010)
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Review
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review
Louise LC Pinto, Taiane A Vieira, Roberto Giugliani, Ida VD Schwartz
Orphanet Journal of Rare Diseases 2010, 5:14 (28 May 2010)
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Review
 -thalassaemia
Cornelis L Harteveld, Douglas R Higgs
Orphanet Journal of Rare Diseases 2010, 5:13 (28 May 2010)
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Review
Inherited epidermolysis bullosa
Jo-David Fine
Orphanet Journal of Rare Diseases 2010, 5:12 (28 May 2010)
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Review
Beta-thalassemia
Renzo Galanello, Raffaella Origa
Orphanet Journal of Rare Diseases 2010, 5:11 (21 May 2010)
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Research
Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia
Hilbert Grievink, Kathryn M Stowell
Orphanet Journal of Rare Diseases 2010, 5:10 (19 May 2010)
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Review
Aldosterone-producing adenoma and other surgically correctable forms of primary aldosteronism
Laurence Amar, Pierre-François Plouin, Olivier Steichen
Orphanet Journal of Rare Diseases 2010, 5:9 (19 May 2010)
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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)
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Case Report
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
Mohammed Al-Owain, Sarar Mohamed, Namik Kaya, Ahmad Zagal, Gert Matthijs, Jaak Jaeken
Orphanet Journal of Rare Diseases 2010, 5:7 (16 April 2010)
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Case Report
Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report
Pedro Acién, Francisco Galán, Irene Manchón, Eva Ruiz, Maribel Acién, Luis A Alcaraz
Orphanet Journal of Rare Diseases 2010, 5:6 (14 April 2010)
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Review
Mucopolysaccharidosis VI
Vassili Valayannopoulos, Helen Nicely, Paul Harmatz, Sean Turbeville
Orphanet Journal of Rare Diseases 2010, 5:5 (12 April 2010)
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Case Report
Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis
Serena Botto Poala, Gianni Bisogno, Raffaella Colombatti
Orphanet Journal of Rare Diseases 2010, 5:4 (12 April 2010)
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Research
Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009
Sébastien Héritier, Martine Le Merrer, Francis Jaubert, Michèle Bigorre, Marion Gillibert-Yvert, Benoit de Courtivron, Makram Ziade, Yves Bertrand, Christian Carrie, Pascal Chastagner, Cécile Bost-Bru, Jean-Claude Léonard, Marie Ouache, Liliane Boccon-Gibod, Pierre Mary, Jacques de Blic, Isabelle Pin, Daniel Wendling, Yann Revillon, Véronique Houdoin, Véronique Forin, Hubert Ducou Lepointe, Jane Languepin, Jeanne Wagnon, Ralph Epaud, Brigitte Fauroux, Jean Donadieu
Orphanet Journal of Rare Diseases 2010, 5:3 (3 February 2010)
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