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Orphanet Journal of Rare Diseases|January 18, 2012
ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failureYingying Qin, Mei Sun, Li You, et al.
Orphanet Journal of Rare Diseases|March 21, 2012
Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian PeninsulaPilar Giraldo, Pilar Alfonso, Pilar Irún, et al.
Orphanet Journal of Rare Diseases|December 20, 2011
Biomarker analysis of Morquio syndrome: identification of disease state and drug responsive markersLisa Martell, Kelly Lau, Miranda Mei, et al.
Orphanet Journal of Rare Diseases|January 5, 2012
Congenital diaphragmatic herniaJuan A Tovar
Orphanet Journal of Rare Diseases|June 28, 2011
Oxytocin may be useful to increase trust in others and decrease disruptive behaviours in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patientsMaïthe Tauber, Carine Mantoulan, Pierre Copet, et al.
Orphanet Journal of Rare Diseases|July 15, 2011
At-risk phenotype of neurofibromatose-1 patients: a multicentre case-control studyEmilie Sbidian, Sylvie Bastuji-Garin, Laurence Valeyrie-Allanore, et al.
Orphanet Journal of Rare Diseases|August 10, 2011
Understanding the impact of 1q21.1 copy number variantChansonette Harvard, Emma Strong, Eloi Mercier, et al.
Orphanet Journal of Rare Diseases|May 17, 2011
X-linked disorders with cerebellar dysgenesisGinevra Zanni, Enrico S Bertini
Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.
Orphanet Journal of Rare Diseases|May 31, 2011
Population pharmacokinetics and pharmacodynamics of hydroxyurea in sickle cell anemia patients, a basis for optimizing the dosing regimenInes Paule, Hind Sassi, Anoosha Habibi, et al.
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