Search - AgroParisTech Access content directly

Filter your results

6 Results
Structure: Internal structure identifier : 1053657

In silico and Functional Studies for Classification of EPAS1/HIF2A Genetic Variants Identified in Patients with Erythrocytosis

Valéna Karaghiannis , Darko Maric , Céline Garrec , Nada Maaziz , Alexandre Buffet , et al.
Blood, 2022, 140 (Supplement 1), pp.8157-8158. ⟨10.1182/blood-2022-163123⟩
Journal articles hal-04031832v1
Image document

Clinical and multi-omics cross-phenotyping of patients with autoimmune and autoinflammatory diseases: the observational TRANSIMMUNOM protocol

Roberta Lorenzon , Encarnita Mariotti-Ferrandiz , Caroline Aheng , Claire Ribet , Férial Toumi , et al.
BMJ Open, 2018, 8 (8), pp.e021037. ⟨10.1136/bmjopen-2017-021037⟩
Journal articles inserm-01978798v1

New risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies

K Wahbi , R Ben Yaou , E Gandjbakhch , F Anselme , T Gossios , et al.
Congress of the European-Society-of-Cardiology (ESC) / World Congress of Cardiology, Aug 2019, Paris, France. pp.5164
Conference papers hal-03983930v1

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing

K. Gaudon , I. Penisson-Besnier , B. Chabrol , F. Bouhour , L. Demay , et al.
Journal of Medical Genetics, 2010, 47 (12), pp.795-796. ⟨10.1136/jmg.2010.081034⟩
Journal articles istex hal-03993892v1

Myosites associées aux anticorps anti-RNP : un phénotype homogène avec une atteinte nécrosante de bon pronostic et des manifestations systémiques persistantes

N. Wesner , A. Uruha , N. Costedoat-Chalumeau , A. Rigolet , Y. Schoindre , et al.
78e congrès de la SNFMI, Dec 2018, Grenoble, France. pp.A113, ⟨10.1016/j.revmed.2018.03.363⟩
Conference papers hal-03833974v1

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa

P. Richard , K. Gaudon , H. Haddad , A. Ammar , E. Genin , et al.
Neurology, 2008, 71 (24), pp.1967-1972. ⟨10.1212/01.wnl.0000336921.51639.0b⟩
Journal articles hal-03863833v1