A. Isapof
发表
F. Rivier,
F. Chapon,
C. Richelme,
2019,
Orphanet Journal of Rare Diseases.
C. Bodemer,
D. Duffy,
J. Herbeuval,
2021,
Rheumatology.
C. Adamsbaum,
A. Gelot,
J. Feingold,
2012,
Prenatal diagnosis.
A. Afenjar,
D. Rodriguez,
T. Billette de Villemeur,
2020,
Neurology: Genetics.
A. Sureau,
J. Rendu,
B. Eymard,
2020,
Neurology: Genetics.
G. Deschênes,
A. Bensman,
S. Leroy,
2010,
Pediatric Nephrology.
M. Cossée,
F. Leturcq,
S. Quijano-roy,
2022,
The Journal of molecular diagnostics : JMD.
C. Bodemer,
G. Bassez,
B. Bader-Meunier,
2018,
Rheumatology.
A. Sinclair,
J. Christodoulou,
T. Stojkovic,
2020,
Human Genetics.
F. Rivier,
C. Richelme,
G. Bassez,
2019,
Neurology.
C. Richelme,
P. Sabouraud,
S. Quijano-roy,
2020,
Orphanet Journal of Rare Diseases.
S. Quijano-roy,
C. Barnérias,
I. Desguerre,
2022,
Neurology.
F. Muntoni,
R. Maroofian,
H. Houlden,
2022,
Annals of clinical and translational neurology.
R. Porcher,
D. Annane,
P. Ravaud,
2021,
European heart journal.
H. Mefford,
Y. Marie,
S. Sisodiya,
2016,
Journal of Medical Genetics.
R. Pfundt,
E. van Binsbergen,
H. Brunner,
2018,
Nature Communications.
R. Pfundt,
V. Shashi,
T. Kleefstra,
2021,
American journal of medical genetics. Part A.
Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib
F. Petit,
V. Gajdos,
A. Isapof,
2010,
Journal of Inherited Metabolic Disease.
M. Reijnders,
D. Segal,
E. Wirrell,
2021,
Neurology. Genetics.
G. Deschênes,
A. Bensman,
H. Debiec,
2006,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2018,
Nature Communications.
A. Afenjar,
D. Sternberg,
S. Chantot-Bastaraud,
2018,
American journal of medical genetics. Part A.
R. Porcher,
É. Marijon,
A. Lazarus,
2019,
Circulation.
K. Baumstarck,
A. Loundou,
P. Auquier,
2019,
Disability and health journal.
V. Minard-Colin,
O. Hartmann,
A. Isapof,
2006,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
B. Neven,
Marie-Christine Nouguès,
A. Escudier,
2020,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
O. Boespflug-Tanguy,
S. Quijano-roy,
C. Barnérias,
2022,
Frontiers in Pediatrics.
E. Malfatti,
N. Romero,
I. Richard,
2020,
European journal of neurology.
X. de Boissezon,
N. Genès,
E. Viehweger,
2022,
Neurology.
F. Giuliano,
P. Cintas,
S. Quijano-roy,
2019,
Neuromuscular Disorders.
R. Pfundt,
E. van Binsbergen,
H. Brunner,
2018,
Nature Communications.
T. Maisonobe,
B. Eymard,
A. Béhin,
2023,
Scientific reports.
H. Mefford,
Y. Marie,
S. Sisodiya,
2016,
Journal of Medical Genetics.