S. Perez-Martin

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

E. Génin, C. Clavel, S. Leroy, 2009, Journal of Medical Genetics.

[Recommendations for the management of bone demineralization in cystic fibrosis].

G. Dacremont, J. Souberbielle, I. Sermet-Gaudelus, 2008, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Real-Life Safety and Effectiveness of Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis.

D. Caimmi, A. Didier, S. Leroy, 2020, American journal of respiratory and critical care medicine.

Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome.

A. Fischer, A. Munnich, A. Rötig, 2009, European journal of medical genetics.

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

V. Dulieu, P. Jouk, C. Rooryck, 2015, European Journal of Human Genetics.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

A. Toutain, N. Philip, R. Salomon, 2013, The Journal of pediatrics.

VEB-1 in Achromobacter xylosoxidans from Cystic Fibrosis Patient, France

A. Péchinot, F. Huet, E. Siebor, 2006, Emerging infectious diseases.

69 Clinical situations and mucoid transition of Pseudomonas aeruginosa in Cystic Fibrosis patients

K. Astruc, A. Fanton, C. Neuwirth, 2006 .

A new water-soluble oral vitamin E formulation in cystic fibrosis (CF) children

D. Turck, A. Munck, F. Huet, 2010 .

Adoption internationale et culture

F. Huet, C. Cremillieux, J. Monléon, 2005 .