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Orphanet Journal of Rare Diseases|February 13, 2013
Barth syndromeSarah L N Clarke, Ann Bowron, Iris L Gonzalez, et al.
Orphanet Journal of Rare Diseases|February 6, 2013
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish populationMarta Corton, Sorina D Tatu, Almudena Avila-Fernandez, et al.
Orphanet Journal of Rare Diseases|February 26, 2013
Small cell ovarian carcinoma: genomic stability and responsiveness to therapeuticsLisa F Gamwell, Karen Gambaro, Maria Merziotis, et al.
Orphanet Journal of Rare Diseases|February 26, 2013
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicatorsMiriam Stampfer, Susanne Theiss, Yasmina Amraoui, et al.
Orphanet Journal of Rare Diseases|February 28, 2013
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneitySmail Hadj-Rabia, Bert L Callewaert, Emmanuelle Bourrat, et al.
Orphanet Journal of Rare Diseases|December 29, 2012
Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's diseaseRaquel Ma Fernández, Marta Bleda, Rocío Núñez-Torres, et al.
Orphanet Journal of Rare Diseases|January 9, 2013
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disabilityTuva Barøy, Doriana Misceo, Petter Strømme, et al.
Orphanet Journal of Rare Diseases|January 10, 2013
Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell culturesParis Jafari, Olivier Braissant, Petra Zavadakova, et al.
Orphanet Journal of Rare Diseases|January 11, 2013
Syndromic diarrhea/Tricho-hepato-enteric syndromeAlexandre Fabre, Christine Martinez-Vinson, Olivier Goulet, et al.
Orphanet Journal of Rare Diseases|January 12, 2013
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patientsSarah C Grünert, Stephanie Müllerleile, Linda De Silva, et al.
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