P. Saugier-Veber
发表
A. Toutain,
A. Wilkie,
J. Galbany,
2019,
Human mutation.
W. Reardon,
R. Touraine,
A. Afenjar,
2017,
Clinical genetics.
T. Frebourg,
Cosette Martin,
N. Meur,
2004,
European Journal of Human Genetics.
E. Zackai,
Soma Das,
A. Toutain,
2004,
Human mutation.
A. Laquérriere,
J. Chelly,
G. Friocourt,
2010,
Acta Neuropathologica.
A. Laquérriere,
T. Frebourg,
S. Coutant,
2018,
Acta Neuropathologica Communications.
A. Laquérriere,
T. Frebourg,
F. Lecoquierre,
2017,
Acta Neuropathologica Communications.
T. Frebourg,
B. Knebelmann,
Abdellah Tebani,
2017,
Molecular genetics & genomic medicine.
A. Afenjar,
T. Roscioli,
A. Verloes,
2018,
neurogenetics.
N. Drouot,
T. Frebourg,
P. Saugier-Veber,
2001,
European journal of endocrinology.
B. Drénou,
S. Coutant,
N. Elçioglu,
2021,
Journal of Medical Genetics.
G. Captier,
H. Kayserili,
M. Vezain,
2018,
American journal of medical genetics. Part A.
E. Tournier-Lasserve,
P. Saugier-Veber,
F. Riant,
2008
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A. Afenjar,
N. Philip,
D. Lacombe,
2018,
Clinical genetics.
A. Laquérriere,
T. Frebourg,
M. Vezain,
2019,
European journal of medical genetics.
D. Campion,
O. Guillin,
V. Drouin‐Garraud,
2020,
Translational Psychiatry.
E. Tournier-Lasserve,
P. Saugier-Veber,
F. Riant,
2013,
neurogenetics.
Sophie Duban-deweer,
P. Saugier-Veber,
S. Dubucquoi,
2018
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J. Wemeau,
Sophie Duban-deweer,
P. Saugier-Veber,
2015,
Autoimmunity.
J. Wemeau,
P. Saugier-Veber,
E. Proust-Lemoine,
2012,
Presse medicale.
J. Weill,
J. Carel,
J. Wemeau,
2010
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J. Weill,
J. Wemeau,
J. Lalau,
2010,
Hormone Research in Paediatrics.
J. Schuurs-Hoeijmakers,
V. Drouin‐Garraud,
H. van Bokhoven,
2014,
European journal of medical genetics.
N. Drouot,
A. Laquérriere,
K. Cassinari,
2021,
Acta neuropathologica communications.
A. Munnich,
S. Julia,
P. Calvas,
2019,
European Journal of Human Genetics.
A. Laquérriere,
T. Frebourg,
L. Marpeau,
2006,
American journal of medical genetics. Part A.
F. Giuliano,
P. Saugier-Veber,
O. Pincemaille,
2009,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
N. Drouot,
V. Czernecki,
T. Frebourg,
2010,
American journal of medical genetics. Part A.
N. Drouot,
O. Quenez,
K. Cassinari,
2022,
Human mutation.
T. Frebourg,
X. le Loët,
A. Goldenberg,
2006,
Rheumatology.
T. Frebourg,
L. Faivre,
P. Gambert,
2005,
European Journal of Human Genetics.
C. Garel,
J. Oury,
V. Drouin‐Garraud,
2009,
American journal of medical genetics. Part A.
A. Munnich,
S. Lyonnet,
L. Villard,
1996,
Nature Genetics.
P. Saugier-Veber,
W. Sepulveda,
E. Corral,
2015,
Case reports in obstetrics and gynecology.
C. V. van Ravenswaaij-Arts,
T. Frebourg,
S. Coutant,
2020,
Human mutation.
J. Bertherat,
A. Brézin,
J. Carel,
2015,
Cornea.
S. Coutant,
F. Lecoquierre,
B. Sadikovic,
2022,
European journal of medical genetics.
E. Tournier-Lasserve,
P. Saugier-Veber,
F. Riant,
2008,
Archives of neurology.
V. Drouin‐Garraud,
T. Frebourg,
G. Matthijs,
2000,
American journal of medical genetics.
A. Munnich,
S. Lyonnet,
D. Rabier,
1995,
Prenatal diagnosis.
A. Afenjar,
N. Philip,
V. Cormier-Daire,
2019,
Genetics in Medicine.
F. Derouin,
E. Gluckman,
A. Sulahian,
1993,
Bone marrow transplantation.
S. Coutant,
F. Lecoquierre,
M. Vezain,
2022,
Human Genetics.
T. Frebourg,
M. Vezain,
J. Vallat,
2011,
Human mutation.
P. Kuhn,
T. Frebourg,
G. Rudolf,
2009,
The New England journal of medicine.
E. Bertini,
R. Schiffmann,
T. Frebourg,
2006,
Annals of human genetics.
A. Lavoinne,
A. Miled,
P. Saugier-Veber,
2011,
Clinica chimica acta; international journal of clinical chemistry.
Y. Agid,
B. Dubois,
D. Campion,
1998,
Human molecular genetics.
R. Pfundt,
A. Toutain,
N. Philip,
2016,
American journal of medical genetics. Part A.
J. Melki,
A. Toutain,
T. Frebourg,
2007,
European Journal of Human Genetics.
A. Horowitz,
P. Saugier-Veber,
V. Gilard,
2020,
bioRxiv.
R. Touraine,
B. Gérard,
A. Piton,
2021,
neurogenetics.
T. Frebourg,
L. Faivre,
C. Thauvin-Robinet,
2009,
Human mutation.
N. Drouot,
A. Munnich,
T. Frebourg,
2001,
Journal of medical genetics.
N. Drouot,
A. Boland,
D. Lacombe,
2022,
Human mutation.
J. Weill,
J. Carel,
J. Wemeau,
2010,
Archives de pédiatrie.
I. Gicquel,
T. Frebourg,
L. Pasquier,
2006,
Human Genetics.
A. Munnich,
D. Bonneau,
O. Boespflug-Tanguy,
1994,
Nature Genetics.
F. Aubin,
P. Saugier-Veber,
P. Humbert,
2014,
Annales de dermatologie et de venereologie.
R. Redon,
N. Drouot,
J. Dartigues,
2020,
European Journal of Human Genetics.
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly
A. Laquérriere,
S. Marret,
P. Marcorelles,
2010,
Acta Neuropathologica.
N. Drouot,
V. Drouin‐Garraud,
T. Frebourg,
2006,
European Journal of Human Genetics.
E. Milgrom,
P. Dessen,
M. Misrahi,
1993,
Biochimica et biophysica acta.
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
T. Bourgeron,
R. Delorme,
D. Campion,
2015,
European Journal of Human Genetics.
A. Toutain,
D. Cohen,
A. Verloes,
2012,
PloS one.
W. Chung,
A. Munnich,
B. Menten,
2021,
Human Genetics.
A. Afenjar,
E. Pasmant,
M. Vidaud,
2016,
Journal of Medical Genetics.
L. Vissers,
B. D. de Vries,
E. Eichler,
2008,
Journal of Medical Genetics.
S. Auvin,
T. Frebourg,
N. Le Meur,
2009,
Journal of Medical Genetics.
A. Afenjar,
V. Drouin‐Garraud,
T. Frebourg,
2007,
Human mutation.
V. Dulieu,
P. Jouk,
C. Rooryck,
2015,
European Journal of Human Genetics.
T. Frebourg,
S. Jacquemont,
C. Le Caignec,
2005,
Journal of Medical Genetics.
R. Touraine,
L. Cuisset,
H. Hamdi-Rozé,
2019,
Prenatal diagnosis.
D. Campion,
T. Frebourg,
D. Bonneau,
2003,
Journal of medical genetics.
M. Shaw,
N. de Leeuw,
J. Gécz,
2020,
American journal of human genetics.
S. Coutant,
F. Lecoquierre,
S. Marret,
2021,
Life.
V. Drouin‐Garraud,
A. Boland,
T. Frebourg,
2021,
European journal of medical genetics.
H. Galehdari,
T. Frebourg,
R. Maroofian,
2020,
European journal of medical genetics.
Jean-François Deleuze,
Gaël Nicolas,
Anne Boland,
2019,
Clinical chemistry.
D. Cohen,
A. Verloes,
G. Anderson,
2013,
Molecular Autism.
R. Redon,
N. Drouot,
J. Dartigues,
2020,
European Journal of Human Genetics.
R. Touraine,
B. Gérard,
A. Piton,
2021,
neurogenetics.
G. Captier,
M. Vezain,
J. Roume,
2022,
American journal of medical genetics. Part A.
M. Shaw,
N. de Leeuw,
J. Gécz,
2021,
American journal of human genetics.
D. Bonneau,
F. Escande,
J. Andrieux,
2011,
European journal of medical genetics.
R. Touraine,
T. Frebourg,
J. Roume,
2016,
Journal of neuromuscular diseases.
R. Touraine,
A. Toutain,
T. Frebourg,
2010,
Human mutation.
R. Touraine,
A. Toutain,
T. Frebourg,
2010,
Human mutation.
J. Melki,
Jeremie Vitte,
C. Brahe,
2007,
The American journal of pathology.
P. Bénit,
A. Munnich,
O. Clermont,
2004,
Human mutation.
N. Drouot,
C. Fallet-Bianco,
P. Gressens,
2013,
Acta Neuropathologica.
N. Drouot,
T. Frebourg,
V. Castellani,
2012,
neurogenetics.
V. Drouin‐Garraud,
T. Frebourg,
N. Le Meur,
2005,
American journal of medical genetics. Part A.
J. Andrieux,
S. Odent,
X. Zanlonghi,
2011,
European Journal of Human Genetics.
N. Chastan,
D. Hannequin,
T. Frebourg,
2006,
Muscle & nerve.
A. Munnich,
A. Toutain,
S. Lyonnet,
1995,
American journal of medical genetics.
Richard J Smeyne,
M. Thakur,
H. Ishikawa,
2018,
EMBO molecular medicine.
Richard J Smeyne,
M. Thakur,
S. Pickup,
2018,
bioRxiv.
N. Drouot,
T. Frebourg,
P. Chambon,
2011,
Genetic testing and molecular biomarkers.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
S. Scherer,
C. Cytrynbaum,
R. Weksberg,
2022,
Brain : a journal of neurology.
J. Borg,
P. Saugier-Veber,
M. Chrétien,
2006,
Thrombosis and Haemostasis.
Thomas Sejersen,
Rachel Thompson,
Clemens Bloetzer,
2013,
Journal of Neurology.
A. Laquérriere,
T. Frebourg,
S. Coutant,
2018,
Acta neuropathologica communications.
Stéphane Marret,
Dominique Bonneau,
Diana Rodriguez,
2002,
Annals of neurology.
E. Tournier-Lasserve,
P. Saugier-Veber,
F. Riant,
2013,
neurogenetics.
D. Hannequin,
D. Wallon,
A. Laquérriere,
2010,
Clinical neuropathology.
A. Delacourte,
C. Duyckaerts,
D. Campion,
2004,
Brain : a journal of neurology.
A. Delacourte,
C. Duyckaerts,
D. Campion,
2004
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I. Gut,
M. Bayés,
J. Melki,
2014,
Human molecular genetics.
Y. Ville,
J. Bernard,
J. Roume,
2001,
Prenatal diagnosis.
A. Munnich,
N. Philip,
N. Le Meur,
1998,
Human mutation.
N. Drouot,
T. Frebourg,
V. Castellani,
2012,
neurogenetics.
H. Cavé,
A. Verloes,
M. Tauber,
2010,
European journal of medical genetics.
A. Laquérriere,
S. Marret,
P. Marcorelles,
2010,
Acta Neuropathologica.
N. Drouot,
A. Boland,
O. Quenez,
2023,
Human Genetics.
A. Munnich,
S. Julia,
P. Calvas,
2019,
European Journal of Human Genetics.
A. Munnich,
S. Lyonnet,
A. Moncla,
1993,
American journal of human genetics.
A. Goldenberg,
P. Saugier-Veber,
A Goldenberg,
2003,
Pathologie-biologie.
T. Lenaerts,
R. Touraine,
M. Abramowicz,
2023,
Human Genomics.
A. Laquérriere,
T. Frebourg,
F. Lecoquierre,
2017,
Acta neuropathologica communications.
A. Laquérriere,
T. Frebourg,
M. Brasseur-Daudruy,
2013,
European journal of medical genetics.
S. Marret,
M. Brasseur-Daudruy,
P. Saugier-Veber,
2018,
Early human development.
A. Afenjar,
N. Philip,
V. Cormier-Daire,
2019,
Genetics in Medicine.
A. Boland,
T. Frebourg,
O. Quenez,
2019,
American journal of medical genetics. Part A.
A. Munnich,
D. Bonneau,
L. Viollet,
2004,
European Journal of Human Genetics.
P. Saugier-Veber,
V. Gilard,
Arie Horowitz,
2020,
bioRxiv.
C. Depienne,
O. Guillin,
A. Afenjar,
2023,
European journal of human genetics : EJHG.