T. Busa
发表
J. Melki,
S. Julia,
R. Touraine,
2015,
European Journal of Human Genetics.
Robert W. Mills,
A J Agopian,
Jonathan H. Chung,
2017,
Circulation. Cardiovascular genetics.
A J Agopian,
Jonathan H. Chung,
E. Zackai,
2022
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A. Toutain,
E. Colin,
S. Nampoothiri,
2018,
Human mutation.
B. Drénou,
S. Coutant,
N. Elçioglu,
2021,
Journal of Medical Genetics.
T. Wieland,
T. Strom,
H. Prokisch,
2017,
European Journal of Human Genetics.
R. Touraine,
E. Leroy-Terquem,
Z. Assaf,
2019,
Archives of Disease in Childhood.
B. Gilbert-Dussardier,
C. Rooryck,
C. Bénéteau,
2017,
European Journal of Human Genetics.
M. Gross,
D. Milewicz,
D. Guo,
2014,
American journal of human genetics.
A. Mégarbané,
S. Julia,
N. Philip,
2014,
American journal of medical genetics. Part A.
E. Liebau,
L. Villard,
M. Milh,
2018,
Human mutation.
R. Pfundt,
M. Reijnders,
G. Meister,
2020,
Nature Communications.
N. Philip,
N. Girard,
H. Sobol,
2015,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
P. Derambure,
P. Fergelot,
S. Rheims,
2021,
Orphanet Journal of Rare Diseases.
B. D. de Vries,
P. Fergelot,
W. Reardon,
2016,
American journal of medical genetics. Part A.
N. Philip,
K. Chaumoitre,
N. Panait,
2016,
European journal of medical genetics.
S. Julia,
R. Touraine,
A. Toutain,
2017,
American journal of medical genetics. Part C, Seminars in medical genetics.
N. Philip,
B. Gilbert-Dussardier,
F. Bilan,
2016,
Prenatal diagnosis.
N. Philip,
N. Girard,
B. Chabrol,
2017,
Clinical dysmorphology.
J. Rosenfeld,
A. V. Vulto-van Silfhout,
E. Eichler,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
N. Philip,
Y. Duffourd,
L. Villard,
2017,
European Journal of Human Genetics.
R. Pfundt,
A. Toutain,
N. Philip,
2016,
American journal of medical genetics. Part A.
M. Owen,
C. Marshall,
Zhengdong D. Zhang,
2022
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A. Jacquier,
L. Boyer,
T. Busa,
2022,
Journal of clinical medicine.
N. Philip,
M. Milh,
A. Moncla,
2013,
European journal of medical genetics.
N. Philip,
B. Chabrol,
M. Longy,
2013,
Gene.
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49
N. Philip,
N. Lévy,
F. Leturcq,
2022,
Genes.
D. Lipsker,
X. Jeunemaître,
M. Manière,
2021,
Clinical genetics.
M. Kubota,
P. Kang,
S. Mohammed,
2020,
European journal of medical genetics.
N. Tommerup,
Nadja Ehmke,
A. Vianna-Morgante,
2018,
European Journal of Human Genetics.
Allison G. Dempsey,
M. Owen,
R. Buckner,
2021,
Translational Psychiatry.
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
L. Bouneau,
P. Calvas,
N. Chassaing,
2022,
Clinical genetics.
N. Philip,
S. Sigaudy,
F. Bretelle,
2019,
American journal of medical genetics. Part A.
K. Devriendt,
C. Woods,
P. Gressens,
2018,
Human mutation.
T. Wieland,
T. Strom,
H. Prokisch,
2016,
European Journal of Human Genetics.
A. Toutain,
N. Philip,
B. Gilbert-Dussardier,
2019,
American Journal of Medical Genetics. Part A.
C. Garel,
J. Andrieux,
B. Delobel,
2021,
Clinical genetics.
A. Auton,
T. Werge,
E. Zackai,
2022
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E. Haan,
S. Mansour,
D. Vidaud,
2021,
European Journal of Human Genetics.
Jean-François Taly,
J. Thevenon,
B. Cogné,
2021,
Journal of Medical Genetics.
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
John Wei,
S. Scherer,
E. Zackai,
2017,
The American journal of psychiatry.
N. Philip,
Y. Duffourd,
L. Villard,
2017,
European Journal of Human Genetics.
C. Flamant,
A. Toutain,
A. Boland,
2021,
European Journal of Human Genetics.
J. Toutain,
C. Yardin,
F. Vialard,
2015,
European Journal of Human Genetics.
G. Lesca,
D. Sanlaville,
F. Diguet,
2022,
European journal of medical genetics.
Alex V. Kotlar,
Sunny X. Tang,
E. Zackai,
2020,
Molecular Psychiatry.
Jen Q. Pan,
Stephan J Sanders,
H. Lerche,
2020,
Epilepsia.
D. Misceo,
L. de Meirleir,
J. Hentschel,
2016,
Neurology.
A. Pagnamenta,
R. Borgatti,
H. Firth,
2018,
Genetics in Medicine.
N. Philip,
J. Andrieux,
A. Moncla,
2014,
American journal of medical genetics. Part A.
G. Jondeau,
D. Lacombe,
L. Faivre,
2019,
Genetics in Medicine.
N. Philip,
M. Milh,
S. Zaffran,
2017,
American journal of medical genetics. Part A.
J. Melki,
S. Julia,
P. Jouk,
2018,
European Journal of Human Genetics.
F. Rivier,
C. Garel,
A. Afenjar,
2022,
Journal of Medical Genetics.
R. Touraine,
N. Philip,
M. Jeraiby,
2017,
American journal of medical genetics. Part A.
A. Toutain,
N. Philip,
B. Gilbert-Dussardier,
2013,
European journal of medical genetics.
J. Melki,
A. Toutain,
A. Verloes,
2021,
Orphanet Journal of Rare Diseases.
K. Devriendt,
K. Prescott,
H. Dietz,
2018,
Genetics in Medicine.
S. Holden,
U. Jensen,
C. Fagerberg,
2021,
Clinical genetics.
F. Escande,
A. Moncla,
J. Martinovic,
2019,
American journal of medical genetics. Part A.
A. Pagnamenta,
R. Borgatti,
H. Firth,
2018,
Genetics in Medicine.
A. Jacquier,
P. Piquet,
V. Gariboldi,
2023,
Journal of clinical medicine.
K. Devriendt,
K. Prescott,
H. Dietz,
2017,
Genetics in Medicine.
A. Toutain,
E. Colin,
S. Nampoothiri,
2018,
Human mutation.
S. Julia,
A. Afenjar,
A. Toutain,
2016,
Clinical genetics.
S. Julia,
A. Afenjar,
A. Toutain,
2016,
Clinical genetics.
A J Agopian,
Jonathan H. Chung,
E. Zackai,
2022
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M. Owen,
C. Marshall,
Zhengdong D. Zhang,
2023,
NPJ genomic medicine.
J. Rosenfeld,
A. V. Vulto-van Silfhout,
E. Eichler,
2023,
Genetics in Medicine.