J. Buratti
发表
Klaus Lehnert,
Holger Lerche,
Annapurna Poduri,
2018,
American journal of human genetics.
Ethan M. Goldberg,
A. Munnich,
E. Goldberg,
2018,
Genetics in Medicine.
T. Strom,
M. Lek,
B. Lenhard,
2018,
Brain : a journal of neurology.
Daniela C. Zarnescu,
J. Gécz,
J. Vincent,
2020,
Nature Genetics.
T. Bourgeron,
C. Gillberg,
L. Cuisset,
2019,
npj Genomic Medicine.
T. Bourgeron,
C. Gillberg,
L. Cuisset,
2018,
bioRxiv.
I. Helbig,
B. Kennedy,
A. Gelot,
2022,
bioRxiv.
A. Afenjar,
D. Rodriguez,
T. Billette de Villemeur,
2020,
Neurology: Genetics.
Thomas Bourgeron,
Christopher Schröder,
Bernhard Horsthemke,
2019,
Nature Communications.
Z. Tümer,
K. Bhatia,
H. Lerche,
2022,
Clinical genetics.
B. Burton,
Katherine H Kim,
W. Dobyns,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
J. Rosenfeld,
P. Striano,
F. Zara,
2022,
American journal of human genetics.
B. Cogné,
A. Piton,
L. Villard,
2021,
Journal of Medical Genetics.
C. Schwartz,
J. Thevenon,
L. Faivre,
2021,
Genetics in Medicine.
J. Gécz,
N. Drouot,
P. Striano,
2022,
Nature Communications.
Ethan M. Goldberg,
A. Munnich,
C. Davidson,
2018,
Genetics in Medicine.
C. Garel,
A. Benachi,
C. Bénéteau,
2020,
Genetics in Medicine.
G. Stevanin,
S. Mercier,
Y. Péréon,
2020,
Movement disorders : official journal of the Movement Disorder Society.
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.
D. MacArthur,
W. Chung,
J. Lupski,
2021,
Genetics in Medicine.
R. Pfundt,
E. van Binsbergen,
H. Brunner,
2018,
Nature Communications.
T. Bourgeron,
R. Delorme,
C. Gillberg,
2016,
Molecular Psychiatry.
J. Gécz,
N. Drouot,
P. Striano,
2022,
medRxiv.
C. Depienne,
V. des Portes,
A. Rastetter,
2021,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
C. Garel,
A. Benachi,
C. Bénéteau,
2020,
Genetics in Medicine.
T. Bourgeron,
R. Delorme,
T. Rolland,
2017,
npj Genomic Medicine.
T. Bourgeron,
R. Delorme,
T. Rolland,
2017,
bioRxiv.
T. Bourgeron,
R. Delorme,
T. Rolland,
2017,
npj Genomic Medicine.
C.,
C. Garel,
É.,
2020,
European Journal of Human Genetics.
J. Graham,
K. Bowling,
A. Afenjar,
2019,
Genetics in Medicine.
T. Leblanc,
C. Bellanné-Chantelot,
F. Bachelerie,
2021,
Haematologica.
J. Thevenon,
L. Faivre,
B. Keren,
2021,
European Journal of Medical Genetics.
T. Frebourg,
C. Bellanné-Chantelot,
S. Shyng,
2021,
Human mutation.
S. Erdin,
C. Woods,
T. Harel,
2020,
Journal of Medical Genetics.
S. Leal,
R. Stevenson,
G. B. Schaefer,
2019,
bioRxiv.
M. Reijnders,
D. Segal,
E. Wirrell,
2021,
Neurology. Genetics.
C. Bellanné-Chantelot,
J. Donadieu,
I. Plo,
2020,
Haematologica.
G. Achaz,
S. Baulac,
E. Leguern,
2021,
Frontiers in Neurology.
Tommaso Pippucci,
Josemir W. Sander,
Edouard Hirsch,
2019,
Nature Communications.
S. Leal,
R. Stevenson,
G. B. Schaefer,
2020,
American journal of human genetics.
Ethan M. Goldberg,
A. Munnich,
C. Davidson,
2018,
Genetics in Medicine.
M. Cossée,
B. Cogné,
J. Rendu,
2023,
Human Genomics.
T. Bourgeron,
E. Génin,
M. Gross,
2018,
European Journal of Human Genetics.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2018,
Nature Communications.
Ye Htet Aung,
A. Munnich,
S. Petrou,
2019,
Brain : a journal of neurology.
Q. Waisfisz,
S. Julia,
D. Wieczorek,
2023,
European Journal of Human Genetics.
D. Heron,
B. Keren,
J. Buratti,
2023,
European Journal of Human Genetics.
C. Schwartz,
C. Garel,
Joy W. Norris,
2020,
European journal of medical genetics.
T. Bourgeron,
C. Gillberg,
L. Cuisset,
2018,
bioRxiv.
E. Malfatti,
C. Papadopoulos,
B. Keren,
2023,
International journal of molecular sciences.
T. Bourgeron,
R. Delorme,
T. Rolland,
2017,
NPJ Genomic Medicine.
R. Pfundt,
E. van Binsbergen,
H. Brunner,
2018,
Nature Communications.
I. Scheffer,
H. Mefford,
E. Haan,
2019,
American Journal of Human Genetics.