J. Steffann
发表
N. Frydman,
R. Frydman,
E. Feyereisen,
2007,
Fertility and sterility.
A. Munnich,
A. Rötig,
J. Steffann,
2020,
Expert review of molecular diagnostics.
J. Steffann,
M. Vekemans,
L. Colleaux,
2016,
Clinical genetics.
A. Munnich,
N. Frydman,
R. Frydman,
2006,
Human reproduction.
A. Munnich,
A. Benachi,
P. Burlet,
2010,
European Journal of Human Genetics.
N. Frydman,
J. Steffann,
H. Chneiweiss,
2018,
Cell stem cell.
Debra J. H. Mathews,
Patricia J. Zettler,
R. Lovell-Badge,
2021,
Stem cell reports.
A. Munnich,
N. Frydman,
R. Frydman,
2010,
Human mutation.
A. Munnich,
E. Leshinsky‐Silver,
D. Lev,
2009,
Molecular genetics and metabolism.
A. Munnich,
J. Steffann,
J. Bonnefont,
2014,
European Journal of Human Genetics.
A. Munnich,
N. Frydman,
R. Fanchin,
2008,
Reproductive biomedicine online.
A. Munnich,
D. Galanaud,
N. Boddaert,
2010,
Journal of Medical Genetics.
A. Munnich,
R. Touraine,
A. Toutain,
2001,
American journal of human genetics.
H. Ropers,
J. Fryns,
A. Verloes,
2001
.
J. Steffann,
J. Poulton,
R. Mcfarland,
2019,
Neuromuscular Disorders.
A. Munnich,
N. Frydman,
R. Fanchin,
2005,
Journal of Medical Genetics.
Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.
A. Munnich,
N. Frydman,
R. Frydman,
2013,
Human molecular genetics.
A. Munnich,
N. Frydman,
R. Frydman,
2012,
European Respiratory Journal.
A. Benachi,
J. Steffann,
P. Ernault,
2003,
Human Genetics.
C. Bodemer,
A. Hovnanian,
A. Lapillonne,
2020,
The British journal of dermatology.
A. Valéri,
C. Clavel,
G. Karsenty,
2013,
Journal of Medical Genetics.
A. Munnich,
N. Frydman,
R. Frydman,
2006,
Molecular human reproduction.
A. Munnich,
N. Frydman,
R. Frydman,
2004,
Human Genetics.
A. Laquérriere,
J. Steffann,
Charles-Joris Roux,
2022,
Seminars in cell & developmental biology.
N. Frydman,
A. Benachi,
J. Steffann,
2021,
Human reproduction.
A. Munnich,
A. Rötig,
C. Guillermet,
2012,
Biochimica et biophysica acta.
A. Munnich,
A. Rötig,
J. Steffann,
2007,
Molecular genetics and metabolism.
A. Munnich,
N. Frydman,
R. Frydman,
2005,
Fertility and sterility.
A. Munnich,
S. Hanein,
J. Steffann,
2003,
Human mutation.
A. Munnich,
N. Frydman,
R. Frydman,
2011,
American journal of human genetics.
A. Munnich,
R. Frydman,
J. Steffann,
2007,
Journal of Medical Genetics.
A. Munnich,
A. Rötig,
A. Benachi,
2006,
Journal of Medical Genetics.
A. Munnich,
N. Frydman,
R. Frydman,
2014,
Cell reports.
J. Steffann,
B. Zwanenburg,
A. Klunder,
1989
.
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency
A. Munnich,
J. Steffann,
B. Chadefaux-Vekemans,
2009,
Human Mutation.
A. Smahi,
C. Bodemer,
O. Chosidow,
2016,
Journal of the European Academy of Dermatology and Venereology : JEADV.
R. Fanchin,
R. Frydman,
J. Steffann,
2009,
European journal of obstetrics, gynecology, and reproductive biology.
S. Hadj-Rabia,
J. Steffann,
I. Sermet-Gaudelus,
2022,
Genes.
Misha Angrist,
Arnold Munnich,
Aravinda Chakravarti,
2002,
Nature Genetics.
A. Munnich,
F. Reyal,
J. Steffann,
2021,
Journal of inherited metabolic disease.
S. Kahraman,
C. Giménez,
J. Traeger-Synodinos,
2018,
Human reproduction.
A. Smahi,
C. Bodemer,
A. Munnich,
2017,
The Journal of allergy and clinical immunology.
A. Smahi,
A. Munnich,
S. Kenwrick,
2004,
Prenatal diagnosis.
J. Steffann,
R. Pfeiffer,
1985,
Ophthalmic paediatrics and genetics.
C. Aloui,
O. Quenez,
D. Hervé,
2020,
Journal of Medical Genetics.
A. Smahi,
C. Bodemer,
A. Munnich,
2014,
Human mutation.
A. Munnich,
N. Frydman,
R. Frydman,
2011,
Bulletin de l'Academie nationale de medecine.
A. Munnich,
R. Fanchin,
P. Burlet,
2011,
Bulletin de l'Academie nationale de medecine.
R. Lovell-Badge,
G. Daley,
J. Steffann,
2019,
The New England journal of medicine.
H. Ropers,
J. Fryns,
A. Verloes,
2001,
Human molecular genetics.
F. Fusco,
J. Steffann,
A. Pescatore,
2012,
European Journal of Human Genetics.
C. Bole-Feysot,
J. Steffann,
J. Pedespan,
2017,
neurogenetics.
C. Bodemer,
F. Fusco,
M. de La Dure-Molla,
2020,
Journal of the European Academy of Dermatology and Venereology : JEADV.
A. Benachi,
D. Stoppa-Lyonnet,
J. Steffann,
2022,
Cancers.
N. Frydman,
J. Steffann,
V. Puy,
2020,
The Journal of clinical endocrinology and metabolism.
A. Munnich,
Y. Ville,
A. Rötig,
2020,
Genetics in Medicine.
C. Bodemer,
S. Hadj-Rabia,
J. Steffann,
2018,
The British journal of dermatology.
A. Smahi,
C. Bodemer,
A. Munnich,
2017,
Molecular genetics and metabolism.
J. Melki,
J. Steffann,
F. Encha-Razavi,
2022,
American journal of medical genetics. Part A.
A. Munnich,
N. Boddaert,
A. Rötig,
2020,
Haematologica.
A. Munnich,
Y. Ville,
J. Steffann,
2019,
BJOG : an international journal of obstetrics and gynaecology.
P. Bénit,
A. Munnich,
P. Rustin,
2003,
Human Genetics.
A. Munnich,
N. Boddaert,
A. Rötig,
2020,
Human mutation.
J. Steffann,
I. Sermet,
G. Lenoir,
2004,
Clinical genetics.
A. Munnich,
N. Frydman,
R. Frydman,
2011,
Clinical genetics.
J. Steffann,
J. Bonnefont,
S. Monnot,
2015,
Clinical genetics.
A. Munnich,
J. Steffann,
A. Rotig,
2017,
Journal of Medical Genetics.
A. Munnich,
N. Frydman,
A. Rötig,
2023,
Human reproduction.
N. Frydman,
J. Steffann,
C. Sonigo,
2022,
Journal of gynecology obstetrics and human reproduction.
A. Munnich,
N. Frydman,
R. Frydman,
2005,
Molecular genetics and metabolism.
A. Munnich,
N. Boddaert,
A. Rötig,
2019,
Molecular genetics and metabolism reports.
S. Hanein,
J. Steffann,
N. Cerf-Bensussan,
2023,
Journal of Clinical Immunology.
A. Munnich,
Y. Ville,
C. Elie,
2017,
Journal of Medical Genetics.
N. Frydman,
A. Benachi,
D. Stoppa-Lyonnet,
2023,
Journal of Assisted Reproduction and Genetics.
F. Fusco,
J. Steffann,
A. Pescatore,
2019,
European Journal of Human Genetics.
A. Munnich,
J. Steffann,
M. Raynaud,
2019,
Prenatal diagnosis.
N. Frydman,
E. Feyereisen,
J. Steffann,
2005,
Medecine sciences : M/S.
A. Munnich,
N. Frydman,
R. Frydman,
2005
.
A. Munnich,
J. Steffann,
J. Bonnefont,
2011
.
N. Boddaert,
J. Chelly,
J. Steffann,
2017,
American journal of medical genetics. Part A.
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency
A. Munnich,
J. Steffann,
B. Chadefaux-Vekemans,
2009,
Human mutation.
A. Munnich,
N. Boddaert,
A. Rötig,
2020,
European Journal of Human Genetics.
A. Munnich,
N. Boddaert,
A. Rötig,
2020
.
D. Galanaud,
N. Boddaert,
A. Rötig,
2010,
Journal of Medical Genetics.
E. Vicaut,
P. Burlet,
J. Steffann,
2021,
F&S science.
F. Fusco,
J. Steffann,
A. Pescatore,
2019,
European Journal of Human Genetics.