C. Quélin
发表
Ethan M. Goldberg,
A. Munnich,
E. Goldberg,
2018,
Genetics in Medicine.
J. Melki,
S. Julia,
R. Touraine,
2015,
European Journal of Human Genetics.
N. Boddaert,
A. Toutain,
N. Philip,
2009,
Archives of neurology.
A. Munnich,
H. Kayserili,
A. Verloes,
2018,
European Journal of Human Genetics.
Y. Ville,
D. Lev,
N. Boddaert,
2018,
European journal of medical genetics.
W. Carré,
C. Dubourg,
C. Quélin,
2022,
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.
P. Derambure,
P. Fergelot,
S. Rheims,
2021,
Orphanet Journal of Rare Diseases.
I. Gicquel,
N. Garcelon,
L. Pasquier,
2011,
Journal of Medical Genetics.
W. Carré,
C. Mouden,
H. Hamdi-Rozé,
2016,
Clinical genetics.
A. Laquérriere,
M. Gonzalès,
J. Chelly,
2016,
European journal of medical genetics.
W. Carré,
H. Hamdi-Rozé,
L. Pasquier,
2019,
Human Genetics.
M. Ruberg,
F. Rivier,
C. Depienne,
2009,
PLoS Genetics.
I. Gicquel,
A. Laquérriere,
L. Pasquier,
2013,
Molecular Syndromology.
L. Pasquier,
E. Colin,
M. Fradin,
2016,
European journal of medical genetics.
M. Ruberg,
F. Rivier,
C. Depienne,
2009,
PLoS genetics.
S. Julia,
R. Touraine,
A. Toutain,
2017,
American journal of medical genetics. Part C, Seminars in medical genetics.
L. Pasquier,
M. Fradin,
T. Attié-Bitach,
2018,
American journal of medical genetics. Part A.
D. Montanaro,
R. Borgatti,
F. Zara,
2020,
Neurology.
Y. Ville,
A. Laquérriere,
A. Verloes,
2012,
European journal of medical genetics.
R. Touraine,
N. Chassaing,
P. Jouk,
2020,
Human mutation.
S. Rossi,
L. Defebvre,
M. Vidailhet,
2014,
Neurology.
Ethan M. Goldberg,
A. Munnich,
C. Davidson,
2018,
Genetics in Medicine.
L. Pasquier,
M. Fradin,
S. Odent,
2022,
European Journal of Medical Genetics.
A. Verloes,
L. Pasquier,
P. Marcorelles,
2014,
American journal of medical genetics. Part A.
A. Munnich,
A. Mégarbané,
A. Afenjar,
2014,
European Journal of Human Genetics.
A. Toutain,
P. Calvas,
N. Chassaing,
2014,
Clinical genetics.
D. Lacombe,
L. Pasquier,
L. Loeuillet,
2009,
European journal of medical genetics.
A. Munnich,
C. Fallet-Bianco,
I. Gut,
2021,
Journal of Medical Genetics.
S. Julia,
J. Rivière,
A. Verloes,
2018,
Journal of Medical Genetics.
S. Julia,
E. Pasmant,
A. Sabbagh,
2021,
Cancers.
E. Haan,
S. Mansour,
D. Vidaud,
2021,
European Journal of Human Genetics.
C. Depienne,
A. Afenjar,
D. Cohen,
2018,
Clinical genetics.
S. Scherer,
N. Brown,
R. Yuen,
2019,
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.
C. Fallet-Bianco,
Y. Ville,
B. Gilbert-Dussardier,
2012,
Journal of Medical Genetics.
L. Pasquier,
S. Odent,
C. Dubourg,
2014,
European journal of medical genetics.
R. Touraine,
J. Mandel,
J. Thevenon,
2020,
Journal of Medical Genetics.
L. D. Da Costa,
M. Senat,
F. Encha-Razavi,
2018,
Prenatal diagnosis.
H. Cavé,
L. Pasquier,
M. Fradin,
2017,
European journal of medical genetics.
W. Carré,
H. Hamdi-Rozé,
L. Pasquier,
2019,
Human Genetics.
J. Rivière,
A. Boland,
J. Deleuze,
2021,
Genetics in Medicine.
Ethan M. Goldberg,
A. Munnich,
C. Davidson,
2018,
Genetics in Medicine.
A. Reymond,
R. Myers,
G. Cooper,
2022,
American journal of human genetics.
A. Munnich,
H. Kayserili,
A. Verloes,
2018,
European Journal of Human Genetics.
M. Fradin,
C. Treguier,
S. Odent,
2015,
Prenatal diagnosis.
J. Melki,
A. Toutain,
A. Verloes,
2021,
Orphanet Journal of Rare Diseases.
C. Rooryck,
L. Pasquier,
E. Colin,
2023,
Frontiers in Genetics.
L. Pasquier,
M. Fradin,
S. Odent,
2023,
European journal of medical genetics.
N. Boddaert,
J. Chelly,
I. Desguerre,
2012,
European journal of medical genetics.
C. Bole-Feysot,
P. Nitschké,
A. Gezdirici,
2017,
Clinical genetics.
N. Boddaert,
L. Vercueil,
J. Chelly,
2012,
neurogenetics.
A. Fortuna,
K. Sermon,
A. Jansen,
2022,
American journal of human genetics.
A. Toutain,
N. Philip,
P. Jouk,
2023,
BMC Health Services Research.
B. V. van Bon,
R. Bernier,
S. Fisher,
2021,
European Journal of Human Genetics.
A. Afenjar,
V. Cormier-Daire,
J. Amiel,
2022,
Orphanet Journal of Rare Diseases.
S. Julia,
C. Rooryck,
F. Vialard,
2023,
Prenatal diagnosis.
T. Bourgeron,
R. Delorme,
T. Rolland,
2017,
NPJ Genomic Medicine.
Antonarakis,
Noskova,
Meadows,
2022,
medRxiv.
J. Rivière,
A. Boland,
J. Deleuze,
2021,
Genetics in Medicine.
G. Edan,
L. Pasquier,
P. Sauleau,
2020,
European journal of medical genetics.
K. Kosaki,
T. Takenouchi,
C. Quélin,
2023,
HGG advances.
C. Depienne,
O. Guillin,
A. Afenjar,
2023,
European journal of human genetics : EJHG.
Rebecca C. Spillmann,
R. Pfundt,
J. Gécz,
2023,
The Journal of clinical investigation.
W. Carré,
C. Mouden,
V. Dupé,
2016,
Clinical genetics.
S. Mazoyer,
L. Pasquier,
G. Lesca,
2023,
European Journal of Medical Genetics.