C. Baumann
发表
G. Matthijs,
B. Gérard,
N. Ginet,
2000,
Human mutation.
Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype
C. Rooryck,
D. Lacombe,
C. Baumann,
2016,
European Journal of Human Genetics.
C. Ponting,
D. Bonthron,
E. Bertini,
2006,
Nature Genetics.
A. Munnich,
C. Orssaud,
S. Hanein,
2012,
American journal of human genetics.
A. Munnich,
J. Clayton-Smith,
S. Hanein,
2013,
American journal of human genetics.
Colin A. Johnson,
M. Huynen,
D. Birnbaum,
2017,
Journal of Medical Genetics.
S. Julia,
R. Touraine,
A. Afenjar,
2016,
American journal of medical genetics. Part A.
O. Delattre,
F. Radvanyi,
C. Baumann,
2010,
Journal of Medical Genetics.
H. Cavé,
A. Verloes,
C. Baumann,
2013
.
H. Cavé,
A. Verloes,
C. Baumann,
2007,
Pediatrics.
D. Sillence,
A. Munnich,
J. Melki,
2009,
European Journal of Human Genetics.
A. Munnich,
I. Simonic,
S. Mehta,
2012,
Journal of Medical Genetics.
H. Brisse,
D. Stoppa-Lyonnet,
C. Baumann,
2014,
Pediatric blood & cancer.
Y. Ville,
D. Lev,
N. Boddaert,
2018,
European journal of medical genetics.
C. Junien,
G. Jondeau,
M. Claustres,
2008,
Human mutation.
M. Elmaleh,
A. Verloes,
C. Baumann,
2006,
European Journal of Human Genetics.
A. Munnich,
A. Toutain,
A. Verloes,
2005,
European Journal of Human Genetics.
M. Holder-Espinasse,
A. Verloes,
M. Carella,
2014,
European Journal of Human Genetics.
C. Petit,
F. Denoyelle,
V. Drouin‐Garraud,
2005,
Archives of otolaryngology--head & neck surgery.
M. Polak,
A. Grüters,
Z. Hochberg,
2011,
The Journal of clinical endocrinology and metabolism.
C. Baumann,
A. Barbaud,
J. Schmutz,
2011,
Journal of the European Academy of Dermatology and Venereology : JEADV.
J. Crolla,
A. Verloes,
C. Baumann,
2005,
American journal of medical genetics. Part A.
A. Munnich,
C. Farra,
A. Verloes,
2009,
Journal of Medical Genetics.
A. Munnich,
C. Farra,
A. Verloes,
2009
.
C. Garel,
P. Czernichow,
C. Baumann,
2006,
Pediatric Research.
N. Philip,
C. Baumann,
S. Odent,
2014,
The Journal of clinical endocrinology and metabolism.
C. Mathew,
G. Pals,
D. Stoppa-Lyonnet,
2005,
American journal of medical genetics. Part A.
A. Verloes,
D. Lacombe,
C. Baumann,
2003,
European Journal of Pediatrics.
A. Verloes,
C. Baumann,
I. Denjoy,
2013,
Clinical genetics.
S. Lyonnet,
C. Baumann,
Y. Sznajer,
2010,
American journal of medical genetics. Part A.
J. Hugot,
M. Schlumberger,
P. Guillausseau,
2009,
European journal of endocrinology.
A. Verloes,
C. Baumann,
J. Dupont,
2017,
American journal of medical genetics. Part A.
R. Deberardinis,
H. Firth,
J. Tolmie,
2012,
Human mutation.
C. Junien,
G. Jondeau,
M. Claustres,
2019
.
J. Hurst,
C. Farra,
A. Toutain,
2019,
European Journal of Human Genetics.
A. Munnich,
A. Mégarbané,
A. Afenjar,
2014,
European Journal of Human Genetics.
A. Munnich,
N. Baena,
A. Verloes,
2014,
Human mutation.
H. Cavé,
N. Philip,
C. Chiaverini,
2019,
The British journal of dermatology.
D. Luton,
C. Baumann,
A. Delezoide,
2006,
Prenatal diagnosis.
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome
C. Baumann,
A. Aboura,
B. Benzacken,
2013,
American journal of medical genetics. Part A.
I. Verma,
C. Baumann,
M. Goossens,
2002,
Human Genetics.
K. Devriendt,
G. Sebag,
C. Baumann,
2013,
American Journal of Neuroradiology.
M. Rybojad,
P. Morel,
C. Baumann,
1999,
Annales de dermatologie et de venereologie.
H. Cavé,
N. Philip,
C. Chiaverini,
2018,
The British journal of dermatology.
C. Baumann,
F. Woimant,
L. Mandelbrot,
1993,
Prenatal diagnosis.
J. Crolla,
A. Verloes,
D. Lacombe,
2005,
European Journal of Human Genetics.
A. Verloes,
C. Baumann,
M. Gerard-Blanluet,
2010,
American journal of medical genetics. Part A.
D. Luton,
J. Oury,
G. Sebag,
2003,
Prenatal diagnosis.
V. Biran,
O. Baud,
A. Verloes,
2011,
Pediatrics.
C. Baumann,
A. Aboura,
S. Drunat,
2011
.
S. Julia,
J. Rivière,
A. Verloes,
2018,
Journal of Medical Genetics.
A. Toutain,
D. Cohen,
A. Verloes,
2012,
PloS one.
Alain Verloes,
David Cohen,
D. Cohen,
2005,
Journal of autism and developmental disorders.
R. Stevenson,
M. Lyons,
J. Mandel,
2015,
European Journal of Human Genetics.
H. Cavé,
A. Toutain,
V. Drouin‐Garraud,
2016,
European Journal of Human Genetics.
A. Toutain,
N. Philip,
B. Gilbert-Dussardier,
2019,
American Journal of Medical Genetics. Part A.
Marc S. Williams,
E. Zackai,
R. Hennekam,
2005,
American journal of medical genetics. Part A.
S. Auvin,
A. Verloes,
C. Baumann,
2014,
European journal of medical genetics.
V. Drouin‐Garraud,
H. Dollfus,
C. Baumann,
2012,
European Journal of Human Genetics.
Annick,
V. Drouin‐Garraud,
H. Dollfus,
2012
.
A. Toutain,
N. Chassaing,
W. Carré,
2016,
Human mutation.
Yoichi Matsubara,
Alain Verloes,
Alice Goldenberg,
2007,
Journal of Medical Genetics.
G Mortier,
G. Mortier,
H. Cavé,
2004,
Journal of Medical Genetics.
S. Lyonnet,
C. Baumann,
Y. Sznajer,
2010,
American journal of medical genetics. Part A.
Corinne Alberti,
Alain Verloes,
Christine Chomienne,
2014,
Journal of Medical Genetics.
A. Afenjar,
A. Verloes,
C. Baumann,
2012,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
R. Hennekam,
H. Cavé,
D. Wieczorek,
2006,
Nature Genetics.
N. Boddaert,
A. Toutain,
M. Picot,
2017,
Clinical Genetics.
A. Afenjar,
V. Drouin‐Garraud,
T. Frebourg,
2007,
Human mutation.
J L Michel,
A. Munnich,
N. Philip,
1998,
American journal of medical genetics.
S. Robertson,
D. Rimoin,
J. Roume,
2006,
Human mutation.
A. Verloes,
C. Baumann,
M. Gerard-Blanluet,
2011,
Fetal and pediatric pathology.
M. Polak,
A. Verloes,
D. Lacombe,
2015,
Human mutation.
C Binquet,
A. Mégarbané,
A. Toutain,
2013,
Clinical genetics.
A. Verloes,
C. Baumann,
M. Merrer,
2002,
American journal of medical genetics.
C. Garel,
J. Oury,
G. Sebag,
2006,
Prenatal diagnosis.
S. Lyonnet,
C. Baumann,
M. Vekemans,
2002,
Clinical genetics.
L. Pasquier,
J. Thevenon,
L. Faivre,
2011,
Human mutation.
S. Watson,
C. Baumann,
J. Klumperman,
2012,
Human mutation.
H. Cavé,
A. Verloes,
C. Baumann,
2012,
American journal of medical genetics. Part A.
S. Julia,
R. Touraine,
A. Afenjar,
2018,
Journal of Medical Genetics.
C. Baumann,
M. Fabre,
S. Cereghini,
2006,
Human molecular genetics.
L. Pasquier,
L. Faivre,
S. Blesson,
2016,
Clinical genetics.
A. Munnich,
N. Philip,
D. Lacombe,
1996,
Clinical genetics.
A. Verloes,
S. Lyonnet,
C. Baumann,
2007,
Clinical genetics.
C. Garel,
C. Baumann,
G. Parenti,
2007,
European Journal of Pediatrics.
N. Galjart,
D. Tibboel,
R. Hofstra,
2016,
Human molecular genetics.
A. Verloes,
C. Baumann,
S. Chantot-Bastaraud,
2003,
European Journal of Human Genetics.
Seneca L. Bessling,
A. McCallion,
A. Munnich,
2009,
Proceedings of the National Academy of Sciences.
J. Oury,
C. Baumann,
C. Dupont,
2012,
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
R. Touraine,
A. Verloes,
M. Vazquez,
2009,
Prenatal diagnosis.
E. Zackai,
A. Munnich,
M. Polak,
2001,
Journal of medical genetics.
C. Bodemer,
A. Munnich,
A. Verloes,
2004,
Journal of Medical Genetics.
E. Lanino,
I. Tezcan,
S. Phadke,
2010,
Human mutation.
A. Verloes,
C. Baumann,
P. Gillet,
2003,
Annales de genetique.
J. Harpey,
C. Baumann,
D. Heron,
2004,
European Journal of Pediatrics.
A. Toutain,
N. Philip,
R. Salomon,
2013,
The Journal of pediatrics.
C. Garel,
M. Hassan,
C. Baumann,
1998,
Skeletal Radiology.
A. Toutain,
N. Philip,
B. Gilbert-Dussardier,
2013,
European journal of medical genetics.
P. Robinson,
E. Arbustini,
C. Béroud,
2012,
American journal of human genetics.
A. Verloes,
C. Baumann,
M. Gerard-Blanluet,
2008,
American journal of medical genetics. Part A.
A. Verloes,
C. Baumann,
L. Titomanlio,
2005,
American journal of medical genetics. Part A.
J. Oury,
C. Baumann,
E. Vuillard,
2005,
Journal de gynecologie, obstetrique et biologie de la reproduction.
Y. Gillerot,
H. Brunner,
A. Verloes,
2006,
American journal of medical genetics. Part A.
G. Mortier,
A. Verloes,
C. Baumann,
2009,
American journal of medical genetics. Part A.
K. Gibson,
C. Baumann,
C. Jakobs,
1994,
Journal of Inherited Metabolic Disease.
Z. Tümer,
H. Stewart,
C. Ruivenkamp,
2015,
American journal of medical genetics. Part A.
I. Gut,
M. Bayés,
J. Melki,
2014,
Human molecular genetics.
M. Elmaleh,
A. Verloes,
C. Baumann,
2005,
European journal of medical genetics.
C. Garel,
J. Oury,
C. Baumann,
2008,
American journal of medical genetics. Part A.
J. Hurst,
C. Farra,
A. Toutain,
2019,
European Journal of Human Genetics.
J. Oury,
M. Alison,
C. Baumann,
2013,
European journal of medical genetics.
C. Baumann,
D. Berrebi,
S. Zeidan,
2009,
Journal of pediatric surgery.
P. Fergelot,
A. Mégarbané,
N. Chassaing,
2016,
Journal of Human Genetics.
G. Jondeau,
D. Lacombe,
L. Faivre,
2006,
Archives des maladies du coeur et des vaisseaux.
C. Garel,
J. Oury,
A. Verloes,
2005,
American journal of medical genetics. Part A.
L. Servais,
H. Cavé,
N. Romero,
2014,
Neuromuscular Disorders.
A. Toutain,
C. Baumann,
C. Dupont,
2018,
Clinical genetics.
C. Baumann,
D. Le Tessier,
C. Baumann,
2012,
Clinical Genetics.
M. Polak,
A. Verloes,
D. Lacombe,
2015,
Human mutation.
J. Hugot,
M. Schlumberger,
P. Guillausseau,
2009,
European journal of endocrinology.
H. Cavé,
C. Baumann,
B. Guillot,
2013,
The British journal of dermatology.
A. Baruchel,
H. Cavé,
S. Gazal,
2014,
Journal of Medical Genetics.
C. Junien,
G. Jondeau,
M. Claustres,
2008,
Human mutation.
A. Verloes,
C. Baumann,
I. Denjoy,
2013,
Clinical genetics.
A. Verloes,
C. Baumann,
N. Blanc,
2003,
Clinical dysmorphology.
J. Oury,
C. Baumann,
E. Vuillard,
2001,
Journal de gynecologie, obstetrique et biologie de la reproduction.
H. Cavé,
A. Toutain,
N. Philip,
2016,
American journal of medical genetics. Part A.
P. Jouk,
B. Gilbert-Dussardier,
L. Pasquier,
2014,
Clinical genetics.