N. Chatron
发表
Michael F. Wangler,
Nele A. Haelterman,
Jill A. Madden,
2021,
bioRxiv.
Alain Calender,
Claire Bardel,
Nicolas Chatron,
2015,
Applied & translational genomics.
A. Toutain,
A. Wilkie,
J. Galbany,
2019,
Human mutation.
Ingo Borggraefe,
Holger Lerche,
Renzo Guerrini,
2017,
Neurology.
C. Négrier,
H. Chambost,
S. Claeyssens-Donadel,
2017,
Haemophilia : the official journal of the World Federation of Hemophilia.
D. Ville,
P. Fourneret,
A. Poisson,
2020,
BMC Medical Genetics.
K. Ostrowsky,
A. Arzimanoglou,
V. des Portes,
2018,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
A. Afenjar,
T. Roscioli,
A. Verloes,
2018,
neurogenetics.
L. Dauchet,
A. Meirhaeghe,
P. Moulin,
2020,
Atherosclerosis.
A. Munnich,
M. Till,
G. Barcia,
2018,
Journal of autism and developmental disorders.
E. Eichler,
J. Chrast,
A. Reymond,
2022,
npj Genomic Medicine.
D. Ville,
V. des Portes,
J. Lemke,
2017,
European Journal of Human Genetics.
P. Moulin,
N. Peretti,
N. Chatron,
2020,
Clinical genetics.
M. Nicolino,
M. Till,
G. Lesca,
2020,
European journal of medical genetics.
Ethan M. Goldberg,
J. Gécz,
M. Tress,
2022,
Genetics in Medicine.
J. Thevenon,
R. Nabbout,
D. Ville,
2022,
European journal of medical genetics.
C. Vinciguerra,
N. Chatron,
D. Sanlaville,
2022,
Journal of thrombosis and haemostasis : JTH.
A. Arzimanoglou,
V. Portes,
G. Lesca,
2022,
European journal of medical genetics.
I. Scheffer,
H. Peeters,
H. Mefford,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
F. Benfenati,
P. Striano,
L. Mazzola,
2022,
Frontiers in Cell and Developmental Biology.
R. Touraine,
V. des Portes,
L. Thibault,
2017,
Molecular Syndromology.
P. Gaucherand,
M. Massoud,
M. Till,
2017,
Journal of gynecology obstetrics and human reproduction.
D. Mei,
S. Zuberi,
G. Barcia,
2022,
European journal of medical genetics.
V. Gay,
S. Meunier,
C. Négrier,
2016,
Journal of thrombosis and haemostasis : JTH.
A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability
C. Schmitz,
S. Mazoyer,
Laurie-Anne Sapey-Triomphe,
2020,
Human Genomics.
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.
A. Vasiljevic,
G. Lesca,
N. Chatron,
2019,
Brain : a journal of neurology.
I. Scheffer,
H. Mefford,
M. Mackay,
2020,
Genetics in Medicine.
A. Pagnamenta,
P. May,
W. van Paesschen,
2019,
Neurology.
Y. Ville,
V. Tsatsaris,
F. Encha-Razavi,
2019,
Prenatal diagnosis.
C. Garel,
J. Andrieux,
B. Delobel,
2021,
Clinical genetics.
R. Touraine,
A. Afenjar,
A. Toutain,
2019,
Journal of Medical Genetics.
A. Reymond,
A. Pagnamenta,
S. Knight,
2020,
bioRxiv.
Patrick Callier,
Antonio Vitobello,
Yannis Duffourd,
2020,
Molecular genetics & genomic medicine.
Michael F. Wangler,
Nele A. Haelterman,
Jill A. Madden,
2022,
Cell reports.
P. May,
S. Knight,
D. Lowenstein,
2022
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S. Antonarakis,
P. Milani,
S. Auvin,
2016,
American journal of human genetics.
L. Vissers,
R. Pfundt,
O. Devinsky,
2021,
medRxiv.
M. Reijnders,
W. Chung,
A. Munnich,
2020,
Genetics in Medicine.
M. Shaw,
N. de Leeuw,
J. Gécz,
2020,
American journal of human genetics.
C. Mottolese,
F. Di Rocco,
J. Chauvel-Picard,
2023,
European Journal of Human Genetics.
H. Galehdari,
T. Frebourg,
R. Maroofian,
2020,
European journal of medical genetics.
Glennis A. Logsdon,
Danny E. Miller,
C. Baker,
2021,
bioRxiv.
Glennis A. Logsdon,
Danny E. Miller,
C. Baker,
2021
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A. Boland,
J. Deleuze,
E. Colin,
2023,
Frontiers in Cell and Developmental Biology.
J. Schuurs-Hoeijmakers,
M. Reijnders,
H. Brunner,
2018,
American journal of human genetics.
R. Pfundt,
G. Carvill,
I. Scheffer,
2018,
Annals of neurology.
Y. Morel,
F. Dijoud,
N. Chatron,
2019,
Front. Endocrinol..
M. Shaw,
N. de Leeuw,
J. Gécz,
2021,
American journal of human genetics.
D. Mitter,
G. Rubboli,
R. Møller,
2019,
Neurology. Genetics.
J. Chrast,
A. Reymond,
Z. Kutalik,
2022,
npj Genomic Medicine.
A. Toutain,
A. Verloes,
B. Gérard,
2021,
Human mutation.
N. Guex,
N. Brown,
W. Chung,
2021,
American journal of human genetics.
N. Guex,
N. Brown,
W. Chung,
2019,
bioRxiv.
I. Poirot,
G. Lesca,
N. Chatron,
2021,
European journal of medical genetics.
A. Munnich,
M. Till,
G. Barcia,
2018,
Journal of Autism and Developmental Disorders.
G. Borsani,
L. Mazzola,
S. Berkovic,
2020,
Annals of neurology.
M. Till,
C. Vinciguerra,
N. Chatron,
2022,
Clinical genetics.
N. Guex,
J. Chrast,
A. Reymond,
2020,
Journal of Medical Genetics.
J. Schuurs-Hoeijmakers,
M. Reijnders,
H. Brunner,
2018,
American journal of human genetics.
V. Portes,
M. Till,
G. Lesca,
2019,
Molecular Genetics and Metabolism Reports.
R. Touraine,
A. Verloes,
B. Gilbert-Dussardier,
2019,
Orphanet Journal of Rare Diseases.
Z. Tümer,
H. Stewart,
C. Ruivenkamp,
2015,
American journal of medical genetics. Part A.
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
P. May,
R. Balling,
H. Lerche,
2020,
Brain : a journal of neurology.
C. Rooryck,
J. Nectoux,
L. Mandelbrot,
2019,
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
F. Ramond,
M. Till,
N. Chatron,
2019,
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
A. Vasiljevic,
G. Lesca,
N. Chatron,
2022,
Prenatal diagnosis.
N. Guex,
J. Chrast,
A. Reymond,
2021,
Human molecular genetics.
L. Raymond,
M. Massoud,
N. Chatron,
2019,
Prenatal Diagnosis.
J. Thevenon,
L. Faivre,
F. Escande,
2020,
Human mutation.
F. Brancati,
L. Bernardini,
F. Vialard,
2023,
European Journal of Human Genetics.
D. Ville,
A. Arzimanoglou,
G. Lesca,
2022,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
G. Lesca,
N. Chatron,
D. Sanlaville,
2017,
Clinical genetics.
V. Cottin,
E. Favre,
A. Poisson,
2019,
European journal of medical genetics.
E. Broussolle,
M. Till,
A. Poisson,
2019,
Biological Psychiatry.
G. Carvill,
H. Mefford,
S. Berkovic,
2023,
medRxiv.
C. Depienne,
O. Guillin,
A. Afenjar,
2023,
European journal of human genetics : EJHG.
D. Ville,
V. Katanaev,
A. Koval,
2023,
Cells.
G. Lesca,
N. Chatron,
A. Labalme,
2023,
European journal of medical genetics.
A. Arzimanoglou,
G. Lesca,
N. Chatron,
2018,
Epileptic disorders : international epilepsy journal with videotape.
S. Mazoyer,
L. Pasquier,
G. Lesca,
2023,
European Journal of Medical Genetics.
A. Pagnamenta,
P. May,
W. van Paesschen,
2019,
Neurology.
M. Barat‐Houari,
A. Delahaye-Duriez,
B. Sadikovic,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
S. Julia,
A. Afenjar,
F. Lecoquierre,
2024,
Journal of medical genetics.
G. Lesca,
N. Chatron,
D. Sanlaville,
2023,
Epilepsia.
Tzung-Chien Hsieh,
K. Chrzanowska,
C. Philippe,
2023,
Human genetics.
G. Lesca,
N. Chatron,
A. Labalme,
2024,
Epilepsia open.