Kolexia
Girodon-Boulandet Emmanuelle Génétique médicale
Girodon-Boulandet Emmanuelle
Génétique médicale
Hôpital Cochin
Paris, France
95 Activités
0 Followers
Scientifique
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Sujets de recherche
{{person.topmesh1.name}} Mucoviscidose Fibrose Pancréatite Kératose palmoplantaire Prédisposition génétique à une maladie Maladies urogénitales de l'homme Maladies pulmonaires Infertilité masculine Pancréatite chronique

Collaborateurs

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Bienvenu Thierry
Bienvenu Thierry
Hôpital Cochin, Paris, France
Sermet Isabelle
Sermet Isabelle
Hôpital Necker Enfants Malades, Paris, France
Raynal Caroline
Raynal Caroline
Hôpital Arnaud de Villeneuve, Limoges, France
Ferec Claude
Ferec Claude
Efs Bretagne Brest Morvan, Brest, France

Industries

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Vertex
5 collaboration(s)
Dernière en 2020
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Dernières activités

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ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society   21 février 2024
Gathering real-world compassionate data to expand eligibility to elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis with N1303K or other rare variants: a viewpoint.
The European respiratory journal   19 janvier 2024
Putting bicarbonate on the spot: pharmacological insights for CFTR correction in the airway epithelium.
Frontiers in pharmacology   11 décembre 2023
Theratyping cystic fibrosis patients to guide elexacaftor/tezacaftor/ivacaftor out-of-label prescription.
The European respiratory journal   19 octobre 2023
Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society   27 septembre 2023
Nonsense mutations accelerate lung disease and decrease survival of cystic fibrosis children.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society   06 juillet 2023
WS10.01 The French Compassionate Programme of elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with advanced lung disease and no F508del CFTR variant
Abstracts of the 46th European Cystic Fibrosis Conference   01 juin 2023
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation.
PloS one   24 avril 2023
The French Compassionate Program of elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis with advanced lung disease and no F508del variant.
The European respiratory journal   16 février 2023
AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
Journal of the European Academy of Dermatology and Venereology : JEADV   24 janvier 2023