M. Fradin
发表
N. Romero,
L. Pasquier,
S. Mercier,
2021,
Acta neuropathologica communications.
Véronique Geoffroy,
Claire Redin,
Jean Muller,
2014,
Journal of Medical Genetics.
F. Rivier,
F. Chapon,
C. Richelme,
2019,
Orphanet Journal of Rare Diseases.
A. Afenjar,
N. Philip,
D. Lacombe,
2018,
Clinical genetics.
A. Afenjar,
N. Philip,
J. Thevenon,
2018,
The Journal of clinical endocrinology and metabolism.
B. Gilbert-Dussardier,
C. Rooryck,
C. Bénéteau,
2017,
European Journal of Human Genetics.
J. Clayton-Smith,
A. Nordgren,
B. Dallapiccola,
2020,
Orphanet Journal of Rare Diseases.
Salima El-Chehadeh,
J. Mandel,
S. Gras,
2014
.
V. Fraix,
L. Kremer,
M. Koenig,
2021,
Genetics in Medicine.
P. Kind,
J. Hentschel,
D. Mitter,
2018,
Brain : a journal of neurology.
P. Derambure,
P. Fergelot,
S. Rheims,
2021,
Orphanet Journal of Rare Diseases.
F. Sturtz,
M. Fradin,
P. Derouault,
2021,
Computational and structural biotechnology journal.
A. Munnich,
S. Robertson,
G. Mortier,
2009,
American journal of human genetics.
D. Sillence,
A. Munnich,
J. Clayton-Smith,
2012,
Human mutation.
F. Leturcq,
J. Nectoux,
V. Tsatsaris,
2016,
Prenatal diagnosis.
J. Salles,
M. Fradin,
P. Guggenbuhl,
2021,
Human molecular genetics.
W. Carré,
H. Hamdi-Rozé,
L. Pasquier,
2019,
Human Genetics.
A. Toutain,
L. Pasquier,
L. Richard,
2019,
Molecular genetics & genomic medicine.
L. Pasquier,
E. Colin,
M. Fradin,
2016,
European journal of medical genetics.
M. Polak,
B. Gilbert-Dussardier,
C. Bénéteau,
2022,
EBioMedicine.
S. Julia,
R. Touraine,
A. Toutain,
2017,
American journal of medical genetics. Part C, Seminars in medical genetics.
F. Rivier,
C. Richelme,
G. Bassez,
2019,
Neurology.
P. Calvas,
M. Cossée,
C. Rooryck,
2022,
Scientific Reports.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
R. Weksberg,
N. Drouot,
Y. Hérault,
2021,
Genetics in Medicine.
L. Pasquier,
M. Fradin,
T. Attié-Bitach,
2018,
American journal of medical genetics. Part A.
D. Montanaro,
R. Borgatti,
F. Zara,
2020,
Neurology.
R. Touraine,
N. Chassaing,
P. Jouk,
2020,
Human mutation.
J. Rosenfeld,
A. V. Vulto-van Silfhout,
E. Eichler,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
L. Pasquier,
M. Fradin,
S. Odent,
2022,
European journal of medical genetics.
A. Munnich,
A. Mégarbané,
A. Afenjar,
2014,
European Journal of Human Genetics.
Corinne Stoetzel,
Jean Muller,
Meriam Koob,
2011,
Clinical genetics.
A. Bloch-Zupan,
H. Dollfus,
M. Fradin,
2015,
Ophthalmic genetics.
S. Julia,
J. Rivière,
A. Verloes,
2018,
Journal of Medical Genetics.
D. Cohen,
L. Pasquier,
S. Tordjman,
2017,
International journal of molecular sciences.
A. Toutain,
N. Philip,
B. Gilbert-Dussardier,
2019,
American Journal of Medical Genetics. Part A.
D. Yap,
W. Dobyns,
D. Weaver,
2016,
Human mutation.
S. Julia,
E. Pasmant,
A. Sabbagh,
2021,
Cancers.
P. Fergelot,
M. Tartaglia,
G. Merla,
2022,
International journal of molecular sciences.
C. Depienne,
A. Afenjar,
D. Cohen,
2018,
Clinical genetics.
C. Flamant,
A. Toutain,
A. Boland,
2021,
European Journal of Human Genetics.
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.
A. Pagnamenta,
R. Borgatti,
H. Firth,
2018,
Genetics in Medicine.
A. Munnich,
H. Stewart,
J. Michaud,
2010,
Human mutation.
A. Boland,
J. Deleuze,
E. Colin,
2023,
Frontiers in Cell and Developmental Biology.
A. Durr,
D. Hannequin,
A. Brice,
2017,
Brain : a journal of neurology.
J. Thevenon,
L. Faivre,
S. Blesson,
2022,
European Journal of Human Genetics.
T. Strom,
K. Devriendt,
J. Clayton-Smith,
2018,
European Journal of Human Genetics.
R. Touraine,
J. Mandel,
J. Thevenon,
2020,
Journal of Medical Genetics.
T. Strom,
K. Devriendt,
J. Clayton-Smith,
2018,
European Journal of Human Genetics.
B. Venkatesh,
H. R. Crollius,
F. Eisenhaber,
2021,
Nature Genetics.
Albert David,
Jon Andoni Urtizberea,
Bruno Eymard,
2019,
Journal of Medical Genetics.
H. Cavé,
L. Pasquier,
M. Fradin,
2017,
European journal of medical genetics.
W. Carré,
H. Hamdi-Rozé,
L. Pasquier,
2019,
Human Genetics.
A. Munnich,
S. Julia,
A. Toutain,
2019,
Genetics in Medicine.
B. Venkatesh,
H. R. Crollius,
F. Eisenhaber,
2021,
Nature Genetics.
A. Toutain,
N. Philip,
B. Gilbert-Dussardier,
2013,
European journal of medical genetics.
W. Carré,
L. Pasquier,
L. Faivre,
2020,
Clinical genetics.
F. Rivier,
C. Béroud,
F. Chapon,
2022,
Orphanet Journal of Rare Diseases.
First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome.
M. Fradin,
P. Guggenbuhl,
S. Odent,
2017,
Joint, bone, spine : revue du rhumatisme.
M. Fradin,
C. Treguier,
S. Odent,
2015,
Prenatal diagnosis.
R. Porcher,
É. Marijon,
A. Lazarus,
2019,
Circulation.
J. Melki,
A. Toutain,
A. Verloes,
2021,
Orphanet Journal of Rare Diseases.
C. Rooryck,
L. Pasquier,
E. Colin,
2023,
Frontiers in Genetics.
W. Reardon,
K. Devriendt,
J. Clayton-Smith,
2014,
European Journal of Human Genetics.
L. Pasquier,
M. Fradin,
S. Odent,
2023,
European journal of medical genetics.
D. Misceo,
W. Craigen,
R. Louie,
2022,
Genetics in Medicine.
A. Fabre,
M. Barat‐Houari,
I. Touitou,
2020,
Arthritis & rheumatology.
P. Calvas,
C. Moutou,
C. Goizet,
2020,
Scientific Reports.
J. Dietemann,
M. Fradin,
D. Astruc,
2011,
Pediatric Radiology.
A. Toutain,
N. Philip,
P. Jouk,
2023,
BMC Health Services Research.
J. Sahel,
E. Colin,
D. Bonneau,
2016,
Ophthalmic genetics.
A. Pagnamenta,
R. Borgatti,
H. Firth,
2018,
Genetics in Medicine.
R. Favre,
P. Calvas,
C. Moutou,
2020,
Scientific Reports.
Stephen C. J. Parker,
James T. Elder,
L. Vissers,
2023,
Nature Genetics.
F. Giuliano,
P. Cintas,
S. Quijano-roy,
2019,
Neuromuscular Disorders.
T. Bourgeron,
R. Delorme,
T. Rolland,
2017,
NPJ Genomic Medicine.
G. Edan,
L. Pasquier,
P. Sauleau,
2020,
European journal of medical genetics.
A. Munnich,
H. Stewart,
J. Michaud,
2010,
Human mutation.
C. Depienne,
O. Guillin,
A. Afenjar,
2023,
European journal of human genetics : EJHG.
T. Kleefstra,
F. Ramond,
A. Riess,
2024,
European journal of human genetics : EJHG.
A. Afenjar,
A. Bayat,
L. Pasquier,
2023,
American journal of medical genetics. Part A.
J. Rosenfeld,
A. V. Vulto-van Silfhout,
E. Eichler,
2023,
Genetics in Medicine.