| | Title | Authors / Editors | Date |
|
unige:151763 |
Bone fragility in patients affected by congenital diseases non skeletal in origin |
Masi, L.; Ferrari, Serge Livio; Javaid, M. K.; Papapoulos, S.; ... Brandi, M. L. |
2021 |
|
unige:157608 |
Randomized clinical trials in ANCA-associated vasculitis: a systematic analysis of the WHO - International Clinical Trials Registry Platform |
Iudici, Michèle; Puéchal, Xavier; Brigante, Alejandro; Atal, Ignacio; Gabay, Cem |
2020 |
|
unige:159879 |
Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics |
Gariani, Karim; Nascimento, Marina; Superti-Furga, Andrea; Tran, Christel |
2020 |
|
unige:131191 |
New insights on congenital pulmonary airways malformations revealed by proteomic analyses |
Barazzone, Constance; Lascano Maillard, Maria Josefina; Andrieu Vidal, Isabelle; Piallat, Marie-Luce; ... Ruchonnet, Isabelle |
2019 |
|
unige:78670 |
Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1 |
Stirnemann, Jérôme; Rose, Christian; De Roux Serratrice, Christine; Dalbies, Florence; ... Belmatoug, Nadia |
2015 |
|
unige:74311 |
Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries |
Bosch, Annet M; Burlina, Alberto; Cunningham, Amy; Bettiol, Esther Odile; ... Regnault, Antoine |
2015 |
|
unige:56133 |
Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires |
Regnault, Antoine; Burlina, Alberto; Cunningham, Amy; Bettiol, Esther Odile; ... Bosch, Annet M |
2015 |
|
unige:78659 |
Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model |
Vigan, Marie; Stirnemann, Jérôme; Caillaud, Catherine; Froissart, Roseline; ... Mentré, France |
2014 |
|
unige:55144 |
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy |
Huemer, Martina; Scholl-Bürgi, Sabine; Hadaya, Karine; Kern, Ilse; ... Karall, Daniela |
2014 |
|
unige:55178 |
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations |
Eggens, Veerle Rc; Barth, Peter G; Niermeijer, Jikke-Mien F; Berg, Jonathan N; ... Baas, Frank |
2014 |
|
unige:37966 |
Sweet taste loss in myasthenia gravis: more than a coincidence? |
Chabwine, Joelle N; Tschirren, Muriel V; Zekeridou, Anastasia; Landis, Basile Nicolas; Kuntzer, Thierry |
2014 |
|
unige:35211 |
Natural history of Barth syndrome: a national cohort study of 22 patients |
Rigaud, Charlotte; Lebre, Anne-Sophie; Touraine, Renaud; Beaupain, Blandine; ... Donadieu, Jean |
2013 |
|
unige:78658 |
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients |
Stirnemann, Jérôme; Vigan, Marie; Hamroun, Dalil; Heraoui, Djazia; ... Belmatoug, Nadia |
2012 |
|
unige:46936 |
Biliary atresia |
Chardot, Christophe |
2006 |
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