V. Cormier-Daire
发表
A. Munnich,
S. Bellais,
C. L. Goff,
2010,
European Journal of Human Genetics.
A. Munnich,
C. Orssaud,
S. Hanein,
2012,
American journal of human genetics.
V. Cormier-Daire,
C. Huber,
2012,
American journal of medical genetics. Part C, Seminars in medical genetics.
N. Dagoneau,
V. Cormier-Daire,
J. Laville,
2010,
American journal of medical genetics. Part A.
A. Munnich,
N. Boddaert,
P. Beales,
2012,
Journal of Medical Genetics.
A. Smahi,
C. Bodemer,
A. Munnich,
2011,
Human mutation.
V. Cormier-Daire,
Alessandra Guasto,
2021,
International journal of molecular sciences.
Pierre Lindenbaum,
Christian Dina,
Laurence Faivre,
2011,
Nature Genetics.
M. Brown,
E. Duncan,
C. Bole-Feysot,
2016,
Journal of Medical Genetics.
Colin A. Johnson,
M. Huynen,
D. Birnbaum,
2017,
Journal of Medical Genetics.
J. Steffann,
M. Vekemans,
L. Colleaux,
2016,
Clinical genetics.
S. Julia,
R. Touraine,
A. Afenjar,
2016,
American journal of medical genetics. Part A.
A. Munnich,
M. Vekemans,
M. D. de Blois,
2003,
Journal of medical genetics.
Alex Magee,
Erik A Sistermans,
Jean-Pierre Fryns,
2006,
American journal of human genetics.
U. Arslan,
V. Cormier-Daire,
A. Alikaşifoğlu,
2019,
American journal of medical genetics. Part A.
A. Afenjar,
N. Philip,
A. Verloes,
2010,
Journal of Medical Genetics.
E. Mayatepek,
V. Cormier-Daire,
L. Neumann,
2006,
American journal of medical genetics. Part A.
Arnold Munnich,
A. Munnich,
L. Ribeiro,
2003,
Human Genetics.
G. Mortier,
R. Tenconi,
S. Mrusek,
2012,
American journal of medical genetics. Part C, Seminars in medical genetics.
C. Le Caignec,
B. Isidor,
B. Bader-Meunier,
2012,
American Journal of Medical Genetics. Part A.
A. Munnich,
A. Mégarbané,
F. Clerget-Darpoux,
2015,
American journal of human genetics.
R. Hennekam,
E. Tobias,
G. Mortier,
2012,
American journal of medical genetics. Part C, Seminars in medical genetics.
A. Munnich,
N. Boddaert,
I. Desguerre,
2016,
neurogenetics.
J. Tolmie,
E. Tobias,
B. Gener,
2010,
Human mutation.
J. Melki,
S. Julia,
R. Touraine,
2015,
European Journal of Human Genetics.
R. Redon,
N. Carter,
H. Fiegler,
2005,
Journal of Medical Genetics.
A. Munnich,
S. Pannier,
V. Cormier-Daire,
2008,
American journal of medical genetics. Part A.
I. Krantz,
D. Horn,
R. Hennekam,
2017,
American journal of medical genetics. Part A.
A. Munnich,
N. Boddaert,
A. Rötig,
2010,
Mitochondrion.
A. Munnich,
P. Rustin,
A. Rötig,
1999,
European Journal of Pediatrics.
E. Schaftingen,
G. Matthijs,
J. Cassiman,
1998,
European Journal of Human Genetics.
A. Munnich,
F. Brunelle,
P. Rustin,
2003,
The Journal of pediatrics.
A. Toutain,
N. Philip,
A. Verloes,
2013,
American journal of medical genetics. Part C, Seminars in medical genetics.
M. Holtgrewe,
C. Gonzaga-Jauregui,
J. Overton,
2020,
Bone.
Arnold Munnich,
Patrick Nitschke,
Alice Goldenberg,
2012,
American journal of human genetics.
A. Munnich,
H. Kayserili,
A. Verloes,
2018,
European Journal of Human Genetics.
H. Duffau,
E. Mandonnet,
T. Roujeau,
2017,
Clinical Neurology and Neurosurgery.
A. Fischer,
J. Casanova,
C. Picard,
2004,
Pediatrics.
A. Munnich,
P. Rustin,
A. Rötig,
1997,
The Journal of pediatrics.
R. Khonsari,
É. Arnaud,
V. Cormier-Daire,
2016,
Annales de chirurgie plastique et esthetique.
A. Munnich,
R. Trembath,
A. Verloes,
2003,
Human molecular genetics.
J. Schuurs-Hoeijmakers,
N. de Leeuw,
E. Bongers,
2011,
Journal of Medical Genetics.
A. Afenjar,
N. Philip,
D. Lacombe,
2018,
Clinical genetics.
V. Cormier-Daire,
C. Le Goff,
2012,
American journal of medical genetics. Part C, Seminars in medical genetics.
D. Sillence,
A. Munnich,
J. Melki,
2009,
European Journal of Human Genetics.
B. Gilbert-Dussardier,
C. Rooryck,
C. Bénéteau,
2017,
European Journal of Human Genetics.
M. Polak,
V. Cormier-Daire,
M. le Merrer,
2014,
European journal of endocrinology.
M. Polak,
G. Pinto,
J. Souberbielle,
2014,
Hormone Research in Paediatrics.
M. Polak,
J. Souberbielle,
V. Cormier-Daire,
2014,
European journal of endocrinology.
J. Sosna,
J. Bar-ziv,
A. Raas-Rothschild,
2011,
Pediatric Radiology.
V. Cormier-Daire,
M. Nicolino,
C. Huber,
2011,
Hormone Research in Paediatrics.
C. Junien,
G. Jondeau,
M. Claustres,
2008,
Human mutation.
A. Munnich,
R. Gorlin,
G. Collod-Béroud,
2003,
Journal of medical genetics.
A. Munnich,
S. Lyonnet,
C. Gicquel,
2004,
American journal of human genetics.
A. Burgun,
N. Garcelon,
A. Neuraz,
2020,
Orphanet journal of rare diseases.
P. Codogno,
V. Cormier-Daire,
P. de Lonlay,
2000,
Glycobiology.
V. Cormier-Daire,
J. Dubail,
2021,
Frontiers in Genetics.
A. Munnich,
A. Toutain,
A. Verloes,
2005,
European Journal of Human Genetics.
N. Rahman,
R. Scott,
J. Birch,
2007,
Journal of Medical Genetics.
N. Rahman,
D. Horn,
Soma Das,
2005,
American journal of human genetics.
V. Cormier-Daire,
G. Baujat,
2007,
Orphanet journal of rare diseases.
M. Polak,
N. Boddaert,
A. Brice,
2017,
Journal of Medical Genetics.
N. Rahman,
D. Baralle,
C. Mercer,
2018,
Wellcome open research.
G. Mortier,
M. Maghnie,
M. Irving,
2021,
Orphanet Journal of Rare Diseases.
N. Rahman,
S. Huson,
S. Mansour,
2007,
Nature Genetics.
A. Munnich,
N. Dagoneau,
V. Cormier-Daire,
2004,
Journal of Medical Genetics.
A. Munnich,
V. Cormier-Daire,
T. Dupré,
2001,
Clinical chemistry.
A. Munnich,
P. Rustin,
A. Rötig,
2005,
Pediatric Nephrology.
A. Munnich,
S. Lyonnet,
M. Vekemans,
2002,
Journal of medical genetics.
A. Munnich,
S. Lyonnet,
S. Romana,
2001,
European Journal of Human Genetics.
B. Zabel,
V. Cormier-Daire,
A. Superti-Furga,
2009,
American journal of human genetics.
S. Seal,
N. Rahman,
I. Temple,
2013,
American journal of medical genetics. Part A.
L. Faivre,
H. Dollfus,
P. Jonveaux,
2010,
Journal of Medical Genetics.
D. Sillence,
A. Munnich,
J. Casanova,
2011,
American journal of human genetics.
A. Munnich,
A. Mégarbané,
L. Faivre,
2004,
American journal of human genetics.
A. Munnich,
D. Cavalcanti,
S. Smithson,
2009,
American journal of human genetics.
J. Schuurs-Hoeijmakers,
E. Bongers,
H. Brunner,
2019
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Gabriele Gillessen-Kaesbach,
Dagmar Wieczorek,
Na Zhu,
2014,
American journal of human genetics.
A. Munnich,
S. Robertson,
G. Mortier,
2009,
American journal of human genetics.
D. Sillence,
A. Munnich,
J. Clayton-Smith,
2012,
Human mutation.
R. Hennekam,
S. Plon,
A. Verloes,
2009,
European Journal of Human Genetics.
A. Green,
I. Kaitila,
R. Hennekam,
2010,
European Journal of Human Genetics.
S. Robertson,
R. Nash,
M. Porteous,
2011,
American journal of medical genetics. Part A.
A. Munnich,
D. Lacombe,
S. Lyonnet,
2002,
American journal of medical genetics.
C. Bodemer,
S. Hadj-Rabia,
V. Cormier-Daire,
2013,
American journal of medical genetics. Part A.
A. Fischer,
J. Casanova,
C. Picard,
2008,
The Journal of experimental medicine.
A. Munnich,
J. Bonaventure,
J. Moreau,
2004,
American journal of human genetics.
E. Zackai,
G. Matherne,
J. Krier,
2016,
American journal of medical genetics. Part A.
A. Munnich,
L. Hertz-Pannier,
F. Brunelle,
2000,
The Journal of pediatrics.
A. Munnich,
C. Farra,
A. Verloes,
2009,
Journal of Medical Genetics.
A. Munnich,
C. Farra,
A. Verloes,
2009
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G. Mortier,
M. Maghnie,
M. Irving,
2022,
Orphanet Journal of Rare Diseases.
N. Boddaert,
N. Garcelon,
D. Hervé,
2022,
Orphanet Journal of Rare Diseases.
G. Mortier,
M. Maghnie,
C. Garel,
2022,
Orphanet Journal of Rare Diseases.
Lisa T. Emrick,
Ivan K. Chinn,
Denise G. Lanza,
2019,
American journal of human genetics.
A. Munnich,
Y. Crow,
D. Krakow,
2008,
Nature Genetics.
A. Munnich,
V. Cormier-Daire,
S. Odent,
2001,
Journal of Medical Genetics.
A. Munnich,
K. Zerres,
L. Faivre,
2004,
American journal of medical genetics. Part A.
A. Green,
E. Bongers,
R. Hennekam,
2015,
American journal of medical genetics. Part A.
G. Mortier,
A. Offiah,
Jacqueline A Taylor,
2011,
Human mutation.
A. Munnich,
L. Faivre,
V. Cormier-Daire,
2004,
American journal of medical genetics. Part A.
A. Munnich,
S. Lyonnet,
C. Gicquel,
2005,
American journal of medical genetics. Part C, Seminars in medical genetics.
R. Redon,
N. Carter,
S. Lyonnet,
2004,
Journal of Medical Genetics.
H. Dollfus,
I. Desguerre,
J. Egly,
2008,
European Journal of Human Genetics.
A. Munnich,
G. Mortier,
G. Scarano,
2012,
Journal of Medical Genetics.
A. Munnich,
G. Mortier,
C. Bole-Feysot,
2014,
American journal of human genetics.
Leah R. Padgett,
M. Econs,
P. Quartier,
2010,
American journal of medical genetics. Part A.
C. L. Goff,
V. Cormier-Daire,
Laure Delhon,
2016
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S. Mehta,
A. Offiah,
K. Rosendahl,
2019,
American journal of medical genetics. Part A.
D. Lacombe,
L. Faivre,
C. Thauvin-Robinet,
2012,
American journal of medical genetics. Part A.
Nicolas Goudin,
V. Cormier-Daire,
C. Le Goff,
2018,
FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
N. Lévy,
D. Amor,
V. Cormier-Daire,
2013,
European Journal of Human Genetics.
A. Munnich,
D. Cavalcanti,
M. Vekemans,
2009,
Journal of Medical Genetics.
A. Munnich,
H. Stewart,
J. Michaud,
2010,
Human mutation.
Sheila Unger,
Stefan Mundlos,
Luca Sangiorgi,
2015,
American journal of medical genetics. Part A.
V. Cormier-Daire,
C. Huber,
L. Van Maldergem,
2019,
European journal of medical genetics.
J. Roume,
V. Cormier-Daire,
T. Attié-Bitach,
2019,
American journal of medical genetics. Part A.
J. Schwartz,
K. Tian,
M. Biggiogera,
2019,
Matrix biology : journal of the International Society for Matrix Biology.
V. Cormier-Daire,
T. Attié-Bitach,
C. Huber,
2022,
Journal of Medical Genetics.
A. Munnich,
R. Salomon,
B. Estournet,
2013,
Journal of Medical Genetics.
A. Munnich,
D. Cavalcanti,
M. Vekemans,
2009
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A. Munnich,
C. Bole-Feysot,
P. Nitschké,
2013,
American journal of human genetics.
P. Gressens,
J. Sibarita,
P. Rustin,
2009,
Human Molecular Genetics.
A. Zinn,
N. S. Thomas,
J. Ross,
2016,
Journal of Human Genetics.
A. Munnich,
P. Rustin,
A. Rötig,
2006,
European journal of medical genetics.
A. Munnich,
V. Cormier-Daire,
J. Feingold,
2008,
American journal of medical genetics. Part A.
A. Munnich,
L. Colleaux,
G. Borck,
2007,
Human mutation.
V. Drouin‐Garraud,
T. Frebourg,
G. Matthijs,
2000,
American journal of medical genetics.
A. Munnich,
A. Mégarbané,
B. Hamel,
2010,
Clinical genetics.
A. Munnich,
L. Al-Gazali,
S. Bellais,
2007,
American journal of human genetics.
V. Cormier-Daire,
2008,
Best practice & research. Clinical rheumatology.
C. Cancrini,
C. Boerkoel,
J. Ehrich,
2007,
Human mutation.
E. van Binsbergen,
N. Matsumoto,
S. Saitoh,
2022,
Journal of Medical Genetics.
A. Afenjar,
N. Philip,
V. Cormier-Daire,
2019,
Genetics in Medicine.
A. Benachi,
K. Briot,
V. Cormier-Daire,
2022,
Orphanet Journal of Rare Diseases.
A. Munnich,
G. Pinto,
L. Faivre,
2005,
European Journal of Human Genetics.
J. Bonaventure,
L. Gibbs,
B. Zabel,
2006,
European Journal of Human Genetics.
C. Junien,
F. Brunelle,
J. Saudubray,
2002,
American journal of medical genetics.
A. Munnich,
R. Marianowski,
F. Brunelle,
2001,
American journal of medical genetics.
A. Munnich,
J. Bonaventure,
D. Rénier,
1999,
European Journal of Human Genetics.
M. de La Dure-Molla,
B. Fournier,
S. Kerner,
2022,
Frontiers in Genetics.
A. Munnich,
D. Lacombe,
S. Lyonnet,
2003,
Journal of medical genetics.
A. Munnich,
V. Cormier-Daire,
M. le Merrer,
2004,
Clinical genetics.
L. Faivre,
P. Quartier,
V. Cormier-Daire,
2013,
American journal of medical genetics. Part A.
A. Munnich,
A. Rötig,
V. Cormier-Daire,
2007,
The Journal of pediatrics.
P. Rustin,
J. Harpey,
G. Ponsot,
1998,
Journal of Inherited Metabolic Disease.
A. Munnich,
P. Rustin,
A. Rötig,
2000
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A. Munnich,
P. Rustin,
A. Rötig,
1998,
American journal of human genetics.
A. Munnich,
N. Philip,
D. Rimoin,
2003,
Journal of medical genetics.
D. Rimoin,
V. Cormier-Daire,
R. Savarirayan,
2001,
Pediatric Radiology.
C. Erneux,
V. Cormier-Daire,
M. Wright,
2017,
Human mutation.
A. Munnich,
N. Dagoneau,
V. Cormier-Daire,
2000,
Clinical genetics.
C. Junien,
G. Jondeau,
M. Claustres,
2019
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A. Afenjar,
E. Colin,
V. Cormier-Daire,
2020,
Journal of inherited metabolic disease.
U. Kornak,
F. Jouret,
O. Devuyst,
2005,
Journal of the American Society of Nephrology : JASN.
N. Dagoneau,
V. Cormier-Daire,
2011
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N. Dagoneau,
V. Cormier-Daire,
J. Corona-Rivera,
2009,
European journal of medical genetics.
A. Munnich,
P. Rustin,
S. Lyonnet,
1998,
American journal of medical genetics.
Colin A. Johnson,
A. Munnich,
Y. Ville,
2012,
American journal of human genetics.
A. Munnich,
L. Faivre,
S. Romana,
2003,
American journal of medical genetics. Part A.
J. Hurst,
C. Farra,
A. Toutain,
2019,
European Journal of Human Genetics.
A. Munnich,
A. Mégarbané,
A. Afenjar,
2014,
European Journal of Human Genetics.
D. Legrand,
V. Cormier-Daire,
F. Foulquier,
2022,
Human genetics.
J. Stoler,
C. Garel,
C. Depienne,
2017,
Human Genetics.
G. Pazour,
J. Rivière,
J. Thevenon,
2016,
Clinical genetics.
A. Munnich,
A. Verloes,
L. Faivre,
2001,
Human Genetics.
D. Legrand,
V. Cormier-Daire,
F. Foulquier,
2022,
Human Genetics.
A. Munnich,
S. Lyonnet,
V. Cormier-Daire,
1997,
American journal of medical genetics.
J. Soulier,
P. Revy,
T. Leblanc,
2016,
Human mutation.
V. Cormier-Daire,
Pauline Marzin,
Elif Yilmaz-Gulec,
2023,
European journal of medical genetics.
N. Garcelon,
S. Lyonnet,
L. Friedlander,
2022,
Orphanet Journal of Rare Diseases.
M. de La Dure-Molla,
B. Fournier,
S. Kerner,
2018,
Journal of dental research.
A. Offiah,
E. Duncan,
V. Cormier-Daire,
2017,
Clinical genetics.
J. Charrow,
K. Larimore,
M. Irving,
2019,
The New England journal of medicine.
G. Mortier,
J. Campbell,
M. Sessa,
2021,
Nature Reviews Endocrinology.
A. Munnich,
C. Cluzeau,
E. Bal,
2006,
Human mutation.
A. Munnich,
P. Rustin,
S. Lyonnet,
1998,
Pediatric Radiology.
V. Cormier-Daire,
K. le Quan Sang,
G. Baujat,
2017,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
V. Cormier-Daire,
M. Merrer,
G. Baujat,
2013,
Clinical Reviews in Bone and Mineral Metabolism.
Sheila Unger,
Andrea Superti-Furga,
Stefan Mundlos,
2011,
American journal of medical genetics. Part A.
A. Munnich,
A. Toutain,
M. Vekemans,
1999,
Acta paediatrica (Oslo, Norway : 1992). Supplement.
Arnold Munnich,
Martine Le Merrer,
Valérie Belin,
1998,
Nature Genetics.
V. Cormier-Daire,
Pauline Marzin,
2019,
Therapeutic advances in endocrinology and metabolism.
N. Boddaert,
P. Sonigo,
B. Chadefaux-Vekemans,
2012,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
A. Munnich,
O. Dulac,
R. Nabbout,
2000,
American journal of human genetics.
V. Cormier-Daire,
B. Fauroux,
M. Zérah,
2018,
American journal of medical genetics. Part A.
V. Maloney,
J. Crolla,
N. S. Thomas,
2005,
American journal of human genetics.
V. Cormier-Daire,
P. Chavassieux,
A. Khairouni,
2020,
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
C. Garel,
V. Cormier-Daire,
H. Ducou le Pointe,
2014,
Pediatric Radiology.
A. Munnich,
V. Cormier-Daire,
M. le Merrer,
2005,
American journal of medical genetics. Part A.
Q. Hennocq,
R. Khonsari,
É. Arnaud,
2020,
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery.
V. Cormier-Daire,
C. Poüs,
A. Bruneel,
2021,
Genes.
Joseph P. McCleery,
R. Hennekam,
Z. Tümer,
2018,
Nature Reviews Genetics.
D. Sillence,
S. Mundlos,
S. Robertson,
2019,
American journal of medical genetics. Part A.
A. Munnich,
N. Dagoneau,
V. Cormier-Daire,
2001,
Journal of medical genetics.
A. Munnich,
A. Benachi,
F. Chevy,
2004,
American journal of medical genetics. Part A.
A. Munnich,
S. Lyonnet,
L. Faivre,
1999,
Journal of medical genetics.
Elias I. Traboulsi,
Suneel S. Apte,
E. Traboulsi,
2008,
Human mutation.
Dian Donnai,
Sheila Unger,
Andrea Superti-Furga,
2016,
Nature Genetics.
B. Roe,
A. Munnich,
E. Génin,
2000,
The Journal of clinical investigation.
S. Puget,
G. Pinto,
V. Cormier-Daire,
2016,
Sleep medicine.
A. Munnich,
C. Fallet-Bianco,
I. Gut,
2021,
Journal of Medical Genetics.
A. Munnich,
P. Nitschké,
D. Lacombe,
2015,
Human mutation.
S. Julia,
J. Rivière,
A. Verloes,
2018,
Journal of Medical Genetics.
C. Le Caignec,
B. Isidor,
V. Cormier-Daire,
2011,
Human mutation.
Yves Moreau,
Gabriele Gillessen-Kaesbach,
Dagmar Wieczorek,
2012,
Nature Genetics.
Gabriele Gillessen-Kaesbach,
Alex Magee,
Alain Verloes,
2009,
American journal of medical genetics. Part A.
R Redon,
D Sanlaville,
L Colleaux,
2006,
Journal of Medical Genetics.
W. Dobyns,
K. Aldinger,
B. Isidor,
2019,
American journal of medical genetics. Part C, Seminars in medical genetics.
A. Afenjar,
E. Pasmant,
M. Vidaud,
2016,
Journal of Medical Genetics.
A. Munnich,
A. Prieur,
P. Woo,
2000,
American journal of medical genetics.
A. Toutain,
N. Philip,
B. Gilbert-Dussardier,
2019,
American Journal of Medical Genetics. Part A.
R. Touraine,
E. Pasmant,
M. Vidaud,
2014,
Journal of Medical Genetics.
A. Munnich,
L. Faivre,
S. Jacquemont,
2002,
Journal of medical genetics.
E. Shoubridge,
A. Munnich,
P. Rustin,
2001,
Journal of medical genetics.
A. Munnich,
P. Rustin,
A. Rötig,
2000,
American journal of human genetics.
Julie C. Sapp,
L. Biesecker,
J. Johnston,
2015,
American journal of human genetics.
P. Landais,
V. Cormier-Daire,
R. Choquet,
2017,
Orphanet Journal of Rare Diseases.
V. Cormier-Daire,
C. Francastel,
G. Velasco,
2021,
International journal of molecular sciences.
Martin A. M. Reijns,
S. Robertson,
J. Rappsilber,
2018,
Nature Genetics.
Martin A. M. Reijns,
S. Robertson,
J. Rappsilber,
2018,
Nature Genetics.
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