M. Schiff
发表
A. Munnich,
N. Boddaert,
A. Rötig,
2021,
Molecular genetics and metabolism.
V. Rigalleau,
À. García‐Cazorla,
M. Couce,
2019,
Orphanet Journal of Rare Diseases.
Marni J. Falk,
Ryan L. Davis,
E. Bertini,
2019,
Journal of Medical Genetics.
M. Schiff,
M. Golinelli-Cohen,
É. Lebigot,
2021,
Biomedicines.
L. Christa,
C. Barnérias,
I. Desguerre,
2018,
Journal of Inherited Metabolic Disease.
S. Nelson,
W. Reardon,
F. Muntoni,
2013,
Neurology.
M. Asato,
M. Schiff,
A. Goldstein,
2015,
Developmental medicine and child neurology.
P. Bénit,
J. Harper,
J. Paulo,
2016,
eLife.
Ich,
M. Baumgartner,
H. Blom,
2019
.
M. Baumgartner,
H. Blom,
L. Vilarinho,
2016,
Journal of Inherited Metabolic Disease.
A. Imbard,
M. Schiff,
M. Lorrot,
2020,
Molecular genetics and metabolism reports.
R. Froissart,
C. Vianey‐Saban,
M. Schiff,
2006,
Molecular genetics and metabolism.
M. Polak,
N. Boddaert,
A. Brice,
2017,
Journal of Medical Genetics.
M. L. Cardoso,
M. Elmaleh‐Bergès,
M. Schiff,
2009,
Journal of Inherited Metabolic Disease.
J. Vockley,
M. Schiff,
A. Mohsen,
2013,
Molecular genetics and metabolism.
M. Baumgartner,
D. Rizopoulos,
Y. Chien,
2019,
Molecular genetics and metabolism.
G. Touati,
A. Bourillon,
M. Elmaleh‐Bergès,
2017,
Journal of Inherited Metabolic Disease.
M. Patterson,
H. Plotkin,
Christina Lam,
2021,
Molecular genetics and metabolism.
P. Milani,
J. Le Gargasson,
M. Schiff,
2021,
Documenta Ophthalmologica.
T. Meitinger,
T. Strom,
H. Prokisch,
2016,
American journal of human genetics.
M. Tuchman,
M. Baumgartner,
S. Waisbren,
2020,
Scientific Reports.
R. Nabbout,
P. van Bogaert,
M. Gibaud,
2021,
Frontiers in Pediatrics.
H. Freeze,
M. Patterson,
Christina Lam,
2019,
Journal of inherited metabolic disease.
A. Banning,
R. Tikkanen,
M. Schiff,
2018,
Biochimica et biophysica acta. Molecular basis of disease.
John J. Mitchell,
D. Zafeiriou,
B. Echenne,
2014,
Journal of Inherited Metabolic Disease.
G. Touati,
C. Hamel,
S. Odent,
2010,
Journal of Inherited Metabolic Disease.
M. Baumgartner,
B. Seifert,
H. Blom,
2018,
Journal of Inherited Metabolic Disease.
A. Verloes,
S. Banka,
T. Reimand,
2020,
Genetics in Medicine.
A. Servais,
P. de Lonlay,
A. Brassier,
2022,
Orphanet Journal of Rare Diseases.
Gloria L. Porras-Hurtado,
Y. Chien,
C. Moreau,
2022,
Journal of inherited metabolic disease.
P. Auquier,
N. Resseguier,
P. de Lonlay,
2022,
The Journal of pediatrics.
L. de Meirleir,
R. Wevers,
S. Wortmann,
2015,
Neuropediatrics.
P. Bénit,
P. Gressens,
L. Huc,
2019,
PloS one.
P. Bénit,
P. Rustin,
M. Schiff,
2016
.
P. Rustin,
J. Vockley,
Malgorzata Rak,
2015,
Molecular genetics and metabolism reports.
P. Bénit,
P. Rustin,
M. Schiff,
2010,
Trends in molecular medicine.
R. Ganetzky,
H. Prokisch,
E. Eklund,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
A. Verloes,
J. Andrieux,
A. Aboura,
2010,
European journal of medical genetics.
P. Evrard,
M. Schiff,
M. Miné,
2006,
Annals of neurology.
Robert W. Taylor,
A. Munnich,
H. Prokisch,
2015,
Human molecular genetics.
T. Wieland,
A. Munnich,
H. Smeets,
2018
.
P. Bénit,
V. Tiranti,
H. Prokisch,
2019,
Orphanet Journal of Rare Diseases.
A. Munnich,
N. Boddaert,
A. Rötig,
2020,
Journal of medical genetics.
A. Imbard,
M. Schiff,
J. Benoist,
2022,
Orphanet Journal of Rare Diseases.
T. Maisonobe,
P. Laforêt,
P. de Lonlay,
2020,
Revue neurologique.
M. Schiff,
J. Bouchereau,
Yvan Herenger,
2019,
Molecular genetics and metabolism reports.
P. Evrard,
R. Blanc,
M. Schiff,
2010,
Pediatric Radiology.
H. Blom,
A. Imbard,
W. Kruger,
2015,
Bioscience reports.
A. Rötig,
P. de Lonlay,
F. Mingozzi,
2022,
Nature Communications.
O. Boespflug-Tanguy,
A. Bourillon,
C. Jardel,
2016,
Molecular genetics and metabolism reports.
H. Maurey,
M. Schiff,
S. Drunat,
2015,
Molecular genetics and metabolism reports.
P. Bénit,
P. Gressens,
L. Huc,
2018,
bioRxiv.
Christina Lam,
C. Ferreira,
A. Freeman,
2021,
Genetics in Medicine.
M. Baumgartner,
B. Seifert,
H. Blom,
2019,
Journal of inherited metabolic disease.
H. Blom,
M. Schiff,
2012,
Neuropediatrics.
B. Tilea,
M. Schiff,
J. Benoist,
2011,
Journal of Inherited Metabolic Disease.
K. Näntö-Salonen,
M. Schiff,
H. Niinikoski,
2016
.
R. Delorme,
M. Mouren,
M. Schiff,
2011,
PloS one.
R. Delorme,
M. Schiff,
J. Benoist,
2010,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
R. Lachmann,
A. Servais,
P. de Lonlay,
2022,
Journal of inherited metabolic disease.
Robert W. Taylor,
A. Ballabio,
E. Bertini,
2020,
Journal of inherited metabolic disease.
M. Schiff,
S. Lebon,
O. Fenneteau,
2012,
Molecular genetics and metabolism.
K. Mills,
P. Clayton,
S. Heales,
2017,
Analytical chemistry.
K. Bhattacharya,
M. Inbar‐Feigenberg,
E. Glamuzina,
2021,
Journal of inherited metabolic disease.
O. Baud,
A. Imbard,
M. Schiff,
2019,
Scientific Reports.
N. Boddaert,
S. Pannier,
D. Lacombe,
2022,
Bone Marrow Transplantation.
A. Munnich,
M. Teitell,
Y. Crow,
2018,
Nature.
J. Häberle,
D. Cheillan,
B. Wermuth,
2005,
The Journal of pediatrics.
Y. Bertrand,
M. Schiff,
P. Cochat,
2005,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
C. Elie,
P. de Lonlay,
A. Brassier,
2016,
Orphanet Journal of Rare Diseases.
M. Schiff,
J. Bouchereau,
2020,
The Journal of nutrition.
C. Vrinten,
G. Ceccarini,
A. Federico,
2020,
Orphanet Journal of Rare Diseases.
A. Munnich,
N. Boddaert,
A. Rötig,
2020,
Neuromuscular Disorders.
P. Rustin,
N. Laing,
J. Christodoulou,
2013,
American journal of human genetics.
M. Baumgartner,
T. Suormala,
P. Chinnery,
2016,
Journal of Inherited Metabolic Disease.
M. Baumgartner,
J. Zeman,
S. Kölker,
2016,
Journal of Inherited Metabolic Disease.
M. Baumgartner,
J. Zeman,
S. Kölker,
2016,
Journal of Inherited Metabolic Disease.
J. Zeman,
M. Couce,
A. Chakrapani,
2016,
Journal of Inherited Metabolic Disease.
C. Dionisi-Vici,
M. Schiff,
H. Ogier de Baulny,
2012,
Molecular genetics and metabolism.
J. Vockley,
S. Wortmann,
T. Derks,
2020,
Genetics in Medicine.
P. Rustin,
N. Romero,
Malgorzata Rak,
2016,
The New England journal of medicine.
P. de Lonlay,
V. McLin,
M. Schiff,
2020,
Journal of inherited metabolic disease.
M. Asato,
M. Schiff,
Miya R. Asato,
2015
.
C. Delanoé,
A. Verloes,
M. Schiff,
2017,
American journal of medical genetics. Part A.
P. Bénit,
P. Rustin,
S. Loublier,
2011,
Nutrition reviews.
P. Bénit,
P. Rustin,
Malgorzata Rak,
2016,
Clinical science.
P. Bénit,
P. Rustin,
S. Loublier,
2009,
Journal of Inherited Metabolic Disease.
Robert W. Taylor,
Vicente A. Yépez,
J. Gagneur,
2021,
medRxiv.
A. Couvineau,
F. Mattioli,
M. Schiff,
2018,
Pediatric Research.
P. Gunaratne,
G. Calin,
C. Coarfa,
2021,
Science.
A. Lombès,
M. Schiff,
H. Ogier de Baulny,
2011,
Seminars in fetal & neonatal medicine.
C. Marelli,
P. Gissen,
Ç. Kasapkara,
2022,
Life.
E. Mayatepek,
M. Schiff,
J. Schlump,
2008,
Journal of Inherited Metabolic Disease.
A. Imbard,
G. Touati,
A. Slama,
2018,
Molecular genetics and metabolism.
Robert W. Taylor,
W. Chung,
H. Prokisch,
2017,
Annals of neurology.
R. Salomon,
F. Mochel,
Y. Aigrain,
2020,
Journal of inherited metabolic disease.
Yan Wang,
R. Muzumdar,
E. Goetzman,
2018,
Journal of Inherited Metabolic Disease.
P. de Lonlay,
L. Galmiche,
A. Brassier,
2015,
JIMD reports.
G. Putet,
L. Sann,
M. Schiff,
2003,
Archives de pédiatrie.
B. Maranda,
A. Novelli,
R. Santer,
2019,
Journal of inherited metabolic disease.
R. Jaussaud,
W. Wuyts,
M. Schiff,
2018,
Molecular genetics and metabolism.
A. Schlessinger,
R. Helaers,
R. Wevers,
2019,
Annals of neurology.
S. Packman,
B. Bembi,
D. Cassiman,
2016,
Molecular genetics and metabolism.
Y. Bertrand,
R. Froissart,
M. Schiff,
2017,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
A. Imbard,
M. Schiff,
J. Pernet,
2022,
Molecular genetics and metabolism.
M. Couce,
C. Dionisi-Vici,
A. Lund,
2021,
The lancet. Diabetes & endocrinology.
G. Deschênes,
M. Schiff,
O. Niel,
2017,
BMC Nephrology.
M. Baumgartner,
G. Scarano,
Y. Chien,
2009,
Human mutation.
P. de Lonlay,
A. Brassier,
S. Renolleau,
2022,
Molecular genetics and metabolism.
L. Servais,
A. Slama,
M. Schiff,
2016,
JIMD reports.
R. Wanders,
M. Schiff,
J. Baruteau,
2012,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
A. Brassier,
M. Schiff,
B. Héron,
2022,
The Journal of pediatrics.
R. Posset,
A. Servais,
P. de Lonlay,
2021,
JIMD reports.
Yudong Wang,
J. Vockley,
Yijen L. Wu,
2021,
Molecular genetics and metabolism.
P. Bénit,
P. Rustin,
M. Schiff,
2011,
PloS one.
F. Gottrand,
L. Béghin,
S. Coopman,
2016,
Clinical nutrition.
A. Munnich,
N. Boddaert,
A. Rötig,
2019,
Molecular genetics and metabolism reports.
F. Mochel,
P. de Lonlay,
M. Schiff,
2021,
Molecular genetics and metabolism.
P. Bénit,
M. Zeviani,
G. Kroemer,
2017,
EBioMedicine.
N. Chuzhanova,
M. Schiff,
M. Miné,
2006,
Molecular genetics and metabolism.
A. Munnich,
N. Boddaert,
A. Rötig,
2020,
Human mutation.
Robert W. Taylor,
T. Wieland,
A. Munnich,
2018,
Orphanet Journal of Rare Diseases.
P. Bénit,
H. Jacobs,
P. Rustin,
2012,
Trends in Endocrinology & Metabolism.
A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.
M. Rolland,
M. Schiff,
N. Guffon,
2006,
Molecular genetics and metabolism.
P. Rustin,
M. Schiff,
2016,
Brain : a journal of neurology.
S. Packman,
B. Bembi,
D. Cassiman,
2016
.
Edward L. Huttlin,
J. Mullikin,
T. Meitinger,
2017,
American journal of human genetics.
P. Auquier,
N. Resseguier,
P. de Lonlay,
2021,
The Journal of pediatrics.
H. Jacobs,
P. Rustin,
J. Vockley,
2012
.
P. Auquier,
N. Resseguier,
P. de Lonlay,
2020,
Jornal de Pediatria.
J. Vockley,
A. Brassier,
M. Schiff,
2022,
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.
M. Baumgartner,
H. Blom,
F. Mochel,
2022,
Journal of inherited metabolic disease.
C. Bodemer,
N. Boddaert,
D. Duffy,
2023,
Journal of Clinical Immunology.
A. Imbard,
P. de Lonlay,
A. Brassier,
2022,
Molecular genetics and metabolism reports.
J. Sarles,
B. Chabrol,
M. Schiff,
2012,
Journal of Inherited Metabolic Disease.
K. Yen,
V. Penard-Lacronique,
B. Geoerger,
2023,
Nature Medicine.
J. Daire,
M. Schiff,
D. Doummar,
2021,
American Journal of Neuroradiology.
S. Packman,
B. Bembi,
D. Cassiman,
2017,
Molecular genetics and metabolism.
A. Imbard,
I. Melki,
M. Schiff,
2022,
Clinical chemistry.
F. Mochel,
P. Jacquin,
N. Belmatoug,
2018,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
F. Rivier,
J. Lefranc,
G. Touati,
2023,
European journal of neurology.
M. Baumgartner,
H. Blom,
L. Vilarinho,
2016,
Journal of Inherited Metabolic Disease.
P. Milani,
M. Schiff,
F. Rigaudière,
2021,
Documenta Ophthalmologica.
E. Agolini,
A. Novelli,
D. Martinelli,
2020,
European Journal of Human Genetics.
C. Barnérias,
I. Desguerre,
M. Hully,
2023,
Molecular genetics and metabolism.
P. de Lonlay,
A. Brassier,
S. Renolleau,
2023,
Journal of inherited metabolic disease.
Marni J. Falk,
H. Prokisch,
A. Rötig,
2023,
Neuromuscular Disorders.
G. Touati,
A. Brassier,
A. Cano,
2017,
Journal of Inherited Metabolic Disease.
C. Delacourt,
J. El Benna,
S. Renolleau,
2021,
European Respiratory Journal.
P. Rustin,
N. Laing,
J. Christodoulou,
2013,
American journal of human genetics.
A. Lombès,
M. Schiff,
H. Ogier de Baulny,
2011,
Seminars in fetal & neonatal medicine.