S. Drunat
发表
P. Elliott,
M. Jarvelin,
C. Gieger,
2011,
Nature.
W. Reardon,
R. Touraine,
A. Afenjar,
2017,
Clinical genetics.
S. Julia,
R. Touraine,
A. Afenjar,
2016,
American journal of medical genetics. Part A.
A. V. Vulto-van Silfhout,
W. Reardon,
N. Philip,
2012,
Molecular Syndromology.
A. Munnich,
A. Benachi,
P. Burlet,
2010,
European Journal of Human Genetics.
A. Laquérriere,
N. Bahi-Buisson,
J. Martinovic,
2021,
European journal of medical genetics.
M. Rooman,
T. Lenaerts,
Y. Borgne,
2019,
Human mutation.
I. Bièche,
H. Cavé,
B. Grandchamp,
2001,
British journal of haematology.
M. Delpech,
S. Valleix,
S. Drunat,
2000,
American journal of ophthalmology.
A. Baruchel,
H. Cavé,
A. Verloes,
2017,
Haematologica.
P. Gressens,
P. Milani,
A. Afenjar,
2020,
Journal of Medical Genetics.
O. Boespflug-Tanguy,
M. Koko,
S. Drunat,
2022,
Frontiers in Genetics.
A. Toutain,
A. Verloes,
J. Elion,
2009,
European journal of medical genetics.
M. Holder-Espinasse,
A. Verloes,
M. Carella,
2014,
European Journal of Human Genetics.
G. Ball,
P. Gressens,
F. Perez,
2015
.
N. Moatti,
S. Drunat,
K. Demuth,
2002,
Free radical biology & medicine.
D. Luton,
J. Oury,
S. Drunat,
2008,
Human reproduction.
J. Paul,
N. Moatti,
S. Drunat,
2001,
European journal of biochemistry.
R. Delorme,
A. Verloes,
B. Isidor,
2021,
Clinical genetics.
V. Meininger,
F. Salachas,
T. Maisonobe,
2012,
Neurology.
F. Rivier,
D. Wieczorek,
I. Touitou,
2013,
European Journal of Human Genetics.
P. Gressens,
A. Verloes,
J. Elion,
2012,
American journal of medical genetics. Part A.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
R. Weksberg,
N. Drouot,
Y. Hérault,
2021,
Genetics in Medicine.
M. Elmaleh,
O. Boespflug-Tanguy,
J. Masliah-planchon,
2015,
BMC Medical Genetics.
F. Portet,
C. Marelli,
O. Boespflug-Tanguy,
2021,
European journal of neurology.
J. Piette,
D. Droz,
D. Canet,
2002,
Kidney international.
P. Rohrlich,
E. Oger,
P. Jonveaux,
2020,
Pediatric hematology and oncology.
J. Soulier,
E. Clappier,
A. Baruchel,
2013,
Haematologica.
S. Coutant,
F. Lecoquierre,
M. Vezain,
2022,
Human Genetics.
T. Frebourg,
M. Vezain,
J. Vallat,
2011,
Human mutation.
A. Verloes,
C. Baumann,
J. Dupont,
2017,
American journal of medical genetics. Part A.
C. Dupont,
A. Tabet,
S. Drunat,
2021
.
M. Cossée,
L. Faivre,
B. Gérard,
2012,
American journal of medical genetics. Part A.
A. Verloes,
J. Andrieux,
A. Aboura,
2010,
European journal of medical genetics.
E. Denamur,
M. Polak,
H. Cavé,
2000,
Diabetes.
A. Verloes,
A. Aboura,
B. Benzacken,
2010,
American journal of medical genetics. Part A.
O. Boespflug-Tanguy,
S. Drunat,
L. Elsayed,
2022,
BMC Medical Genomics.
H. Maurey,
M. Schiff,
S. Drunat,
2015,
Molecular genetics and metabolism reports.
P. Gressens,
V. El Ghouzzi,
L. Graul-Neumann,
2013,
Human mutation.
K. Norga,
E. Clappier,
H. Cavé,
2018,
Leukemia.
D. Luton,
J. Oury,
C. Le Ray,
2008,
Twin Research and Human Genetics.
C. Rooryck,
D. Lacombe,
E. Lasseaux,
2018,
Clinical genetics.
J. Soulier,
E. Clappier,
A. Baruchel,
2012
.
T. Molina,
H. Smeets,
R. Hofstra,
2021,
The Journal of clinical investigation.
V. Biran,
O. Baud,
A. Verloes,
2011,
Pediatrics.
C. Baumann,
A. Aboura,
S. Drunat,
2011
.
K. Devriendt,
C. Woods,
P. Gressens,
2018,
Human mutation.
R. Stevenson,
M. Lyons,
J. Mandel,
2015,
European Journal of Human Genetics.
J. Mosser,
A. Toutain,
N. Philip,
2011,
European journal of medical genetics.
S. Auvin,
A. Verloes,
C. Baumann,
2014,
European journal of medical genetics.
J. Hoenicka,
J. Baptista,
A. Fry,
2021,
American journal of medical genetics. Part A.
Anselm H. C. Horn,
Sharyn A. Lincoln,
A. Verloes,
2019,
Genetics in Medicine.
N. Boddaert,
A. Verloes,
P. Nitschké,
2017,
Brain : a journal of neurology.
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.
Pieter B. T. Neerincx,
Spencer J. Gibson,
Farid Yavari Dizjikan,
2021,
European Journal of Human Genetics.
C. Delanoé,
A. Verloes,
M. Schiff,
2017,
American journal of medical genetics. Part A.
J. Mosser,
A. Toutain,
A. Verloes,
2010,
European journal of medical genetics.
K. Shirahige,
T. Akiyama,
P. Gressens,
2016,
American journal of human genetics.
P. Gressens,
A. Toutain,
N. Chassaing,
2012,
European Journal of Human Genetics.
S. Julia,
R. Touraine,
A. Afenjar,
2018,
Journal of Medical Genetics.
Trevor J Pugh,
L. Pennacchio,
J. Priest,
2015,
Human mutation.
O. Boespflug-Tanguy,
M. Koko,
S. Drunat,
2021,
Journal of Human Genetics.
R. Touraine,
T. Frebourg,
J. Roume,
2016,
Journal of neuromuscular diseases.
E. Zackai,
H. Hakonarson,
C. Saunders,
2019,
European journal of medical genetics.
P. Gressens,
H. Cavé,
A. Verloes,
2022,
British journal of haematology.
J. Laplanche,
A. Verloes,
C. Herlin,
2013,
European Journal of Human Genetics.
B. Harding,
P. Gressens,
F. Di Cunto,
2016,
American journal of human genetics.
R. Scharfmann,
P. Froguel,
M. Phillip,
2013,
The lancet. Diabetes & endocrinology.
J. Cayuela,
E. Macintyre,
H. Cavé,
2015,
British journal of haematology.
A. Verloes,
S. Drunat,
S. Ünal,
2014,
European journal of medical genetics.
J. Hugot,
B. Gérard,
O. Goulet,
2014,
Journal of pediatric gastroenterology and nutrition.
B. V. van Bon,
A. Hoischen,
K. Devriendt,
2014,
European Journal of Human Genetics.
Pieter B. T. Neerincx,
Spencer J. Gibson,
Farid Yavari Dizjikan,
2021,
European Journal of Human Genetics.
V. Bours,
A. Verloes,
V. El Ghouzzi,
2019,
European journal of medical genetics.
A. Verloes,
T. Leblanc,
M. Doco‐Fenzy,
2017,
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.
A. Verloes,
C. Baumann,
M. Gerard-Blanluet,
2008,
American journal of medical genetics. Part A.
M. Delpech,
S. Valleix,
S. Drunat,
2000,
Ophthalmology.
M. Delpech,
S. Valleix,
S. Drunat,
2000
.
W. Huttner,
P. Gressens,
S. Eliez,
2016,
Cortex.
G. Ball,
P. Gressens,
F. Perez,
2015,
Human molecular genetics.
Z. Tümer,
H. Stewart,
C. Ruivenkamp,
2015,
American journal of medical genetics. Part A.
Lisa T. Emrick,
Ellen F. Macnamara,
Barbara N. Pusey,
2023,
American journal of human genetics.
Véronique Geoffroy,
Corinne Stoetzel,
Uwe Strähle,
2015,
American journal of human genetics.
P. Gressens,
A. Verloes,
S. Drunat,
2013
.
I. Nelson,
N. Romero,
B. Eymard,
2022,
Journal of neuromuscular diseases.
M. Polak,
M. Vaxillaire,
A. Bonnefond,
2008,
Pediatric diabetes.
C. Aloui,
D. Vidaud,
L. Grangeon,
2019,
Stroke.
Suvasini Sharma,
S. Drunat,
S. Goel,
2015,
The Indian Journal of Pediatrics.
R. Hennekam,
A. Verloes,
S. Mazoyer,
2016,
Clinical genetics.
P. Sonigo,
A. Benachi,
D. Lacombe,
2018,
Birth defects research.
M. Safar,
P. Boutouyrie,
J. Paul,
2002,
Atherosclerosis.
S. Auvin,
A. Verloes,
V. El Ghouzzi,
2021,
Developmental medicine and child neurology.
A. Verloes,
S. Drunat,
S. Passemard,
1993
.
T. Bourgeron,
R. Delorme,
T. Rolland,
2017,
NPJ Genomic Medicine.
A. Toutain,
C. Baumann,
C. Dupont,
2018,
Clinical genetics.
Pieter B. T. Neerincx,
Spencer J. Gibson,
Farid Yavari Dizjikan,
2023,
Human Genomics.
L. Coin,
C. Gieger,
R. Pfundt,
2011,
Nature.
P. Elliott,
M. Jarvelin,
C. Gieger,
2021
.
S. Drunat,
E. Flex,
Y. Capri,
2023,
Haematologica.
J. Hugot,
B. Gérard,
O. Goulet,
2014,
Journal of pediatric gastroenterology and nutrition.
D. Luton,
J. Oury,
S. Drunat,
2008,
Human reproduction.
S. Drunat,
Y. Vial,
A. A. Bonnard,
2024,
EMBO reports.