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Orphanet Journal of Rare Diseases|May 31, 2011
A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patientsKatharina Rall, Gianmaria Barresi, Michael Walter, et al.
Orphanet Journal of Rare Diseases|April 12, 2011
Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosisTawhida Y Abdel Ghaffar, Ezzat S Elsobky, Solaf M Elsayed
Orphanet Journal of Rare Diseases|May 6, 2011
Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in FranceTu Anh Duong, Emilie Sbidian, Laurence Valeyrie-Allanore, et al.
Orphanet Journal of Rare Diseases|June 18, 2011
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutationsSerena Grossi, Stefano Regis, Roberta Biancheri, et al.
Orphanet Journal of Rare Diseases|June 10, 2011
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patientsMarilena Briguglio, Lorenzo Pinelli, Lucio Giordano, et al.
Orphanet Journal of Rare Diseases|November 9, 2011
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare diseaseMaurizio Scarpa, Zsuzsanna Almássy, Michael Beck, et al.
Orphanet Journal of Rare Diseases|November 3, 2011
Xeroderma pigmentosumAlan R Lehmann, David McGibbon, Miria Stefanini
Orphanet Journal of Rare Diseases|December 3, 2011
Fibrodysplasia ossificans progressiva: clinical and genetic aspectsRobert J Pignolo, Eileen M Shore, Frederick S Kaplan
Orphanet Journal of Rare Diseases|October 26, 2011
Sporadic and genetic forms of paediatric somatotropinoma: a retrospective analysis of seven cases and a review of the literatureCécile Nozières, Pascale Berlier, Clémentine Dupuis, et al.
Orphanet Journal of Rare Diseases|November 15, 2011
Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicitiesCameron M Beech, Sandya Liyanarachchi, Nidhi P Shah, et al.
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