R. Schiffmann
发表
Kristy Brown,
A. Vanderver,
E. Hoffman,
2012,
International journal of mass spectrometry.
Raphael Schiffmann,
Enrico Bertini,
Odile Boespflug-Tanguy,
2004,
European Journal of Human Genetics.
R. Schiffmann,
L. Ouchchane,
O. Boespflug-Tanguy,
2009,
PloS one.
Sikandar G. Khan,
R. Schiffmann,
C. Brewer,
2009,
DNA repair.
R. Schiffmann,
R. Brady,
2012,
Drugs.
A. Vanderver,
R. Schiffmann,
S. Grimmond,
2016,
Annals of neurology.
R. Schiffmann,
F. Barkhof,
D. Ellison,
2019,
Definitions.
A. Vanderver,
R. Schiffmann,
A. Durr,
2009,
Brain : a journal of neurology.
J. Dambrosia,
R. Schiffmann,
J. M. Aerts,
1997,
Annals of neurology.
R. Schiffmann,
D. Bichet,
R. Torra,
2021,
Molecular genetics and metabolism reports.
D. Lockhart,
R. Schiffmann,
Matthew R. G. Taylor,
2014,
Journal of the American Heart Association.
Vladimir G. Gainullin,
E. Bertini,
A. Vanderver,
2020,
Annals of clinical and translational neurology.
D. F. Moore,
J. Dambrosia,
R. Schiffmann,
2003,
Muscle & nerve.
H. Hakonarson,
Yiran Guo,
A. Vanderver,
2014,
Neurology.
R. Schiffmann,
2010,
Journal of Inherited Metabolic Disease.
Jonathan E. Dickerson,
R. Schiffmann,
J. Tolmie,
2012,
Nature Genetics.
A. Vanderver,
R. Schiffmann,
B. Coulombe,
2019,
The Journal of Biological Chemistry.
R. Schiffmann,
R. Brady,
C. Kaneski,
1999,
Proceedings of the National Academy of Sciences of the United States of America.
R. Schiffmann,
N. Fleischer,
E. Sidransky,
2021,
Molecular genetics and metabolism.
R. Schiffmann,
G. di Chiro,
J. Alger,
1995,
Neurology.
D. F. Moore,
R. Schiffmann,
R. Brady,
2001,
JAMA.
R. Schiffmann,
2010,
Genetics in Medicine.
R. Schiffmann,
P. Elliott,
A. Mehta,
2009,
The Lancet.
R. Schiffmann,
D. Kleiner,
L. Perlee,
2007,
Virchows Archiv.
R. Schiffmann,
H. Sticht,
A. Rauch,
2017,
European journal of medical genetics.
R. Schiffmann,
I. Lubensky,
R. Brady,
1998,
Proceedings of the National Academy of Sciences of the United States of America.
R. Schiffmann,
I. Lubensky,
M. Tsokos,
1999,
The American journal of surgical pathology.
R. Schiffmann,
J. Gusella,
S. Slaugenhaupt,
1999,
American journal of human genetics.
D. F. Moore,
R. Schiffmann,
R. Brady,
2001,
Journal of Inherited Metabolic Disease.
R. Schiffmann,
M. Knaap,
F. Mochel,
2019,
The Lancet Neurology.
R. Schiffmann,
Ljc Scott,
2002,
Acta paediatrica (Oslo, Norway : 1992). Supplement.
R. Schiffmann,
R. Brady,
C. Kaneski,
2007,
Molecular genetics and metabolism.
R. Schiffmann,
J. Nagle,
L. Goldfarb,
2001,
Clinical genetics.
R. Schiffmann,
C. Wanner,
D. Warnock,
2017,
Kidney international.
R. Schiffmann,
C. Wanner,
D. Warnock,
2022
.
R. Schiffmann,
C. Wanner,
D. Warnock,
2018
.
R. Schiffmann,
P. Chang,
Y. Lien,
2014,
Orphanet Journal of Rare Diseases.
S. Packman,
R. Schiffmann,
R. Desnick,
2009,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
R. Schiffmann,
R. Steiner,
A. Mehta,
2009,
Journal of the American Society of Nephrology : JASN.
R. Schiffmann,
D. Bichet,
R. Giugliani,
2019,
American journal of medical genetics. Part A.
R. Schiffmann,
B. Schlaggar,
R. Brady,
2006,
Pediatrics.
R. Schiffmann,
R. Colvin,
O. Goker-Alpan,
2019,
Journal of inherited metabolic disease.
R. Schiffmann,
D. Blankenship,
M. Ries,
2015,
Journal of Inherited Metabolic Disease.
R. Schiffmann,
R. Steiner,
A. Mehta,
2013,
Genetics in Medicine.
R. Schiffmann,
A. Eidelman,
J. Faber,
1985,
International journal of pediatric otorhinolaryngology.
R. Schiffmann,
O. Boespflug-Tanguy,
M. Theisen,
2012,
PloS one.
R. Schiffmann,
R. Devereux,
A. Linhart,
2009,
Clinical therapeutics.
R. Schiffmann,
H. Waller,
J. Bodennec,
2003,
Journal of Biological Chemistry.
G. Holmes,
R. Schiffmann,
S. Hamburger,
1993,
Journal of child neurology.
R. Schiffmann,
J. Panza,
R. Pursley,
2001,
Stroke.
A. Vanderver,
R. Schiffmann,
B. Brais,
2011,
American journal of human genetics.
A. Vanderver,
R. Schiffmann,
B. Brais,
2011,
American journal of human genetics.
R. Schiffmann,
G. Lopez,
E. Sidransky,
2017,
Molecular genetics and metabolism.
A. Vanderver,
R. Schiffmann,
R. Carrozzo,
2021,
Genetics in Medicine.
R. Schiffmann,
R. Brady,
A. Mehta,
2007,
Journal of clinical pharmacology.
R. Schiffmann,
O. Boespflug-Tanguy,
F. Mochel,
2010,
Biochimica et biophysica acta.
D. F. Moore,
Donald W. Miller,
R. Schiffmann,
2013
.
R. Schiffmann,
T. Salame,
Ron Rotkopf,
2020,
Progress in Neurobiology.
R. Schiffmann,
J. Frank,
R. Kinkel,
1997,
Annals of neurology.
R. Schiffmann,
R. Brady,
E. FitzGibbon,
2011,
PloS one.
R. Schiffmann,
M. Ries,
2005,
Archives of dermatology.
R. Schiffmann,
B. Bembi,
E. Sidransky,
2003,
Molecular genetics and metabolism.
R. Schiffmann,
T. Bottiglieri,
Seng H. Cheng,
2017,
Human molecular genetics.
R. Schiffmann,
S. Karlsson,
C. Dunbar,
1995,
Blood.
R. Schiffmann,
M. Patterson,
R. Brady,
1993,
Neurology.
R. Schiffmann,
1996,
JAMA.
S. Lehéricy,
R. Schiffmann,
V. Czernecki,
2019,
Journal of Neurology, Neurosurgery, and Psychiatry.
R. Schiffmann,
T. Bottiglieri,
M. Sathyamoorthy,
2018,
Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions.
A. Vanderver,
R. Schiffmann,
D. Timmann,
2020,
The Journal of clinical endocrinology and metabolism.
A. Vanderver,
R. Schiffmann,
S. Chouinard,
2019,
Movement disorders clinical practice.
R. Schiffmann,
M. S. van der Knaap,
2004,
Current opinion in neurology.
R. Schiffmann,
B. Brais,
G. Bernard,
2012,
Archives of neurology.
A. Vanderver,
R. Schiffmann,
C. Catsman-Berrevoets,
2014,
Neurology.
R. Schiffmann,
B. Brais,
G. Bernard,
2012
.
R. Schiffmann,
M. Ries,
2016,
Pediatric neurology.
R. Schiffmann,
2015,
Handbook of clinical neurology.
R. Schiffmann,
R. Brady,
G. Murray,
2008,
BMC neurology.
R. Schiffmann,
R. Brady,
W. Benko,
2007,
Journal of the American Society of Nephrology : JASN.
R. Schiffmann,
P. Choyke,
R. Brady,
2004,
Kidney international.
R. Schiffmann,
R. Brady,
T. Liang,
2000,
Proceedings of the National Academy of Sciences of the United States of America.
R. Schiffmann,
R. Brady,
T. Liang,
2000
.
R. Schiffmann,
B. Martin,
E. Sidransky,
2003,
Pediatric Research.
R. Schiffmann,
L. Nelson,
O. Boespflug-Tanguy,
2004,
BMC women's health.
R. Schiffmann,
D. Rodriguez,
O. Boespflug-Tanguy,
2003,
American journal of human genetics.
R. Schiffmann,
J. Heiss,
M. Tsokos,
2006,
Neurology.
R. Schiffmann,
R. Brady,
J. Flaherty,
2006,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
R. Schiffmann,
J. Moon,
D. Warnock,
2020,
BMJ Open.
R. Schiffmann,
A. Busch,
Shuyuan Chen,
2015,
Journal of Inherited Metabolic Disease.
R. Schiffmann,
P. Herscovitch,
G. Altarescu,
2002,
BMC neurology.
R. Schiffmann,
E. Sidransky,
O. Goker-Alpan,
2005,
Journal of Medical Genetics.
R. Schiffmann,
P. Elliott,
J. Moon,
2021,
Molecular genetics and metabolism.
R. Schiffmann,
R. Matalon,
R. Armstrong,
2000,
Acta Neuropathologica.
R. Schiffmann,
M. Ries,
G. Zirzow,
2006,
Neurology.
F. Eichler,
A. Vanderver,
R. Schiffmann,
2015,
Molecular genetics and metabolism.
J. Dambrosia,
R. Schiffmann,
N. Patronas,
1998,
Neurology.
R. Schiffmann,
L. Clarke,
J. Aerts,
2016,
Genetics in Medicine.
R. Schiffmann,
J. Shayman,
C. Kaneski,
2008,
Molecular genetics and metabolism.
R. Schiffmann,
Y. Eto,
Jinsong Shen,
2013,
Molecular therapy. Nucleic acids.
R. Schiffmann,
G. Altarescu,
D. Moore,
2005,
Neurology.
E. Bertini,
R. Schiffmann,
A. Hénaut,
2012,
PloS one.
F. Eichler,
A. Vanderver,
R. Schiffmann,
2015,
eNeuro.
Davide,
Adeline,
F. Eichler,
2022
.
R. Schiffmann,
Matthew R. G. Taylor,
T. Bottiglieri,
2016
.
R. Schiffmann,
R. Brady,
J. McArthur,
2006,
Muscle & nerve.
T. Crawford,
R. Schiffmann,
J. McArthur,
1999,
Neurology.
R. Schiffmann,
R. Brady,
2003
.
H. Morizono,
A. Vanderver,
R. Schiffmann,
2011,
Neurology.
A. Singleton,
K. Fischbeck,
A. Vanderver,
2019,
American journal of human genetics.
R. Schiffmann,
E. Ginns,
P. Elias,
2011,
Molecular genetics and metabolism.
R. Schiffmann,
B. Bembi,
A. Tylki-Szymańska,
2009,
Journal of Inherited Metabolic Disease.
R. Schiffmann,
C. Harris,
E. FitzGibbon,
2008,
Annals of neurology.
R. Schiffmann,
E. Sidransky,
O. Goker-Alpan,
2003,
The Journal of pediatrics.
R. Schiffmann,
B. Bembi,
A. Erikson,
1997
.
R. Schiffmann,
A. Uluğ,
Df Moore,
2002,
Acta paediatrica (Oslo, Norway : 1992). Supplement.
R. Schiffmann,
T. Bottiglieri,
M. Sathyamoorthy,
2017,
Coronary artery disease.
R. Schiffmann,
Cheng-Chang Chen,
C. Grimm,
2014,
Nature Communications.
R. Schiffmann,
J. Kopp,
M. Branton,
2002,
Journal of the American Society of Nephrology : JASN.
Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement
R. Schiffmann,
M. Abu-Asab,
M. Tsokos,
2006,
Virchows Archiv.
R. Schiffmann,
N. Patronas,
K. Kraemer,
2007,
Neuroscience.
Sikandar G. Khan,
R. Schiffmann,
A. Paller,
2009,
Archives of dermatology.
A. Vanderver,
R. Schiffmann,
T. Meitinger,
2014,
Neurology.
A. Vanderver,
R. Schiffmann,
G. Bernard,
2013,
Journal of neuropathology and experimental neurology.
R. Schiffmann,
J. Politei,
O. Morand,
2019,
Advances in Therapy.
R. Schiffmann,
P. Chang,
N. Longo,
2016,
Drug design, development and therapy.
R. Schiffmann,
L. Sweetman,
N. Brignol,
2011,
Journal of Lipid Research.
R. Schiffmann,
M. Gelderman,
J. Šimák,
2011
.
R. Schiffmann,
T. Reimschisel,
G. Pastores,
2010,
The Journal of pediatrics.
R. Schiffmann,
J. Clarke,
J. Bultas,
2007,
Genetics in Medicine.
R. Schiffmann,
M. Gelderman,
J. Šimák,
2007,
Arteriosclerosis, thrombosis, and vascular biology.
R. Schiffmann,
C. Kaneski,
H. Askari,
2007,
Journal of the Neurological Sciences.
R. Schiffmann,
M. Anver,
G. Murray,
2007,
Molecular genetics and metabolism.
R. Schiffmann,
2007,
Annals of Internal Medicine.
R. Schiffmann,
R. Brady,
M. Gelderman,
2006
.
R. Schiffmann,
R. Brady,
M. Gelderman,
2006,
Acta paediatrica (Oslo, Norway : 1992). Supplement.
R. Schiffmann,
E. Dimitriadis,
J. Panza,
2002
.
R. Schiffmann,
C. Auray-Blais,
Jinsong Shen,
2020,
Journal of Lipid Research.
A. Vanderver,
R. Schiffmann,
A. Majnemer,
2018,
Pediatric neurology.
M. Gladwin,
M. Pease-Fye,
R. Schiffmann,
2001,
Circulation.
R. Schiffmann,
T. Bottiglieri,
J. Marshall,
2019,
Molecular genetics and metabolism reports.
R. Schiffmann,
T. Bottiglieri,
Seng H. Cheng,
2018,
Journal of Inherited Metabolic Disease.
R. Schiffmann,
Seng H. Cheng,
T. Frischmuth,
2016,
Journal of Inherited Metabolic Disease.
R. Schiffmann,
2008,
Virchows Archiv.
R. Schiffmann,
M. Ries,
2005,
The Lancet.
R. Schiffmann,
F. Johnson,
A. Das,
2021,
Clinical pharmacology in drug development.
R. Schiffmann,
R. Brady,
G. Murray,
2005,
Biochemical and biophysical research communications.
R. Schiffmann,
S. Karlsson,
R. Brady,
1998,
Human gene therapy.
R. Schiffmann,
S. Karlsson,
P. H. Correll,
1994,
Experimental hematology.
E. Bertini,
R. Schiffmann,
T. Frebourg,
2006,
Annals of human genetics.
R. Schiffmann,
M. Mckee,
S. Hill,
1995,
Annals of Internal Medicine.
R. Schiffmann,
2009,
Pharmacology & therapeutics.
R. Schiffmann,
R. Armstrong,
D. Rodriguez,
1998
.
J. Dambrosia,
R. Schiffmann,
H. Mankin,
2002,
Blood cells, molecules & diseases.
R. Schiffmann,
J. Heiss,
C. Vaurs-Barrière,
2003,
Annals of neurology.
R. Schiffmann,
E. Sidransky,
E. Lloyd-Evans,
2005,
Neurobiology of Disease.
A. Vanderver,
R. Schiffmann,
J. Shults,
2020,
Annals of neurology.
R. Schiffmann,
O. Boespflug-Tanguy,
F. Mochel,
2019,
American Journal of Neuroradiology.
F. Eichler,
A. Vanderver,
R. Schiffmann,
2015,
Molecular genetics and metabolism.
R. Schiffmann,
2013
.
R. Schiffmann,
A. Kulkarni,
N. Cawley,
2019,
Journal of Neuroinflammation.
R. Schiffmann,
2015,
Journal of Inherited Metabolic Disease.
R. Schiffmann,
T. Bottiglieri,
M. Sathyamoorthy,
2017,
The American journal of cardiology.
R. Schiffmann,
D. Krasnewich,
R. Zori,
2009,
American journal of medical genetics. Part A.
Angela N. Viaene,
A. Vanderver,
R. Schiffmann,
2020,
Journal of child neurology.
R. Schiffmann,
K. Nicholls,
G. Sunder-Plassmann,
2018
.
R. Schiffmann,
R. Brady,
R. Brady,
2000,
JAMA.
R. Schiffmann,
R. Levy,
A. Durr,
2012,
Annals of neurology.
R. Schiffmann,
D. Bichet,
A. Mehta,
2020,
Genetics in medicine : official journal of the American College of Medical Genetics.
R. Schiffmann,
D. Millington,
J. Clarke,
2009,
Journal of Inherited Metabolic Disease.
R. Schiffmann,
A. Benigni,
C. Auray-Blais,
2010,
Clinical journal of the American Society of Nephrology : CJASN.
R. Schiffmann,
M. Brennan,
H. Lancaster,
2001,
Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics.
R. Schiffmann,
2001,
Journal of Inherited Metabolic Disease.
R. Schiffmann,
P. Elliott,
A. Mehta,
2010,
The Lancet.
R. Schiffmann,
S. Karlsson,
J. Medin,
1995,
Blood.
R. Schiffmann,
R. McCarron,
T. DeGraba,
2000,
Annals of neurology.
A. Green,
D. Bonthron,
E. Bertini,
2007,
American journal of human genetics.
R. Schiffmann,
O. Boespflüg-Tanguy,
Odile Boespflüg-Tanguy,
2001,
Current opinion in neurology.
R. Schiffmann,
J. Alger,
B. Trapp,
1994,
Annals of neurology.
R. Schiffmann,
J. Nagle,
S. Slaugenhaupt,
2000,
Human molecular genetics.
R. Schiffmann,
M. Ries,
E. Forget,
2012,
PharmacoEconomics.
R. Schiffmann,
R. Brady,
C. Tifft,
2006,
Genetics in Medicine.
J. Dambrosia,
R. Schiffmann,
R. Brady,
2005,
Pediatrics.
R. Schiffmann,
J. Butman,
D. Moore,
2003,
AJNR. American journal of neuroradiology.
R. Schiffmann,
S. Kotsopoulos,
M. Ries,
2005,
Medicine.
R. Schiffmann,
Janine A. Smith,
E. Goldin,
2002,
Ophthalmology.
R. Schiffmann,
Xian-Ping Dong,
G. Dong,
2016,
Scientific Reports.
R. Schiffmann,
R. Kroggel,
P. Siebert,
1985
.
R. Schiffmann,
K. Frei,
2002,
Advances in neurology.
R. Schiffmann,
2020,
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.
R. Schiffmann,
D. Blankenship,
M. Abdelwahab,
2016,
Neurology: Genetics.
R. Schiffmann,
2015
.
R. Schiffmann,
E. Sidransky,
O. Goker-Alpan,
2008,
The Journal of pediatrics.
R. Schiffmann,
E. Sidransky,
O. Goker-Alpan,
2006,
Clinical genetics.
J. Allman,
R. Schiffmann,
E. Sidransky,
2004,
Molecular genetics and metabolism.
R. Schiffmann,
B. Bembi,
A. Erikson,
1997,
Bailliere's clinical haematology.
R. Schiffmann,
Y. Levin,
A. Savidor,
2015,
PloS one.
R. Schiffmann,
R. Brady,
G. Murray,
2010,
Journal of Lipid Research.
R. Schiffmann,
A. Kulkarni,
J. Ward,
1999,
Proceedings of the National Academy of Sciences of the United States of America.
The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease.
R. Schiffmann,
R. Brady,
E. Wiggs,
2001,
The Journal of pediatrics.
R. Schiffmann,
R. Colvin,
D. Bichet,
2018,
Orphanet Journal of Rare Diseases.
R. Schiffmann,
W. Wilcox,
D. Bichet,
2015
.
R. Schiffmann,
W. Wilcox,
D. Bichet,
2015
.
D. Lockhart,
R. Schiffmann,
C. Barlow,
2016,
Journal of Medical Genetics.
D. Lockhart,
R. Schiffmann,
C. Barlow,
2016,
Genetics in Medicine.
D. Lockhart,
S. Packman,
R. Schiffmann,
2016,
The New England journal of medicine.
R. Schiffmann,
F. Beuschlein,
P. Krayenbuehl,
2019,
Journal of inherited metabolic disease.
R. Schiffmann,
W. Wilcox,
D. Bichet,
2018
.
R. Schiffmann,
R. Brady,
J. Kopp,
2002,
Medicine.
R. Schiffmann,
D. Bichet,
R. Giugliani,
2019,
Molecular genetics and metabolism reports.
D. Lockhart,
R. Schiffmann,
J. Flanagan,
2011,
Human mutation.
R. Schiffmann,
R. Brady,
G. Murray,
2007,
Biochemical and biophysical research communications.
R. Schiffmann,
R. Brady,
J. Medin,
1999,
Experimental hematology.
R. Schiffmann,
N. McNeill,
L. Sweetman,
2018,
Genetics in Medicine.
R. Schiffmann,
N. McNeill,
L. Sweetman,
2017,
Genetics in Medicine.
R. Schiffmann,
P. Herscovitch,
N. Patronas,
2003,
Brain Research Bulletin.
R. Schiffmann,
S. Kirsch,
R. Quinton,
2011,
The Journal of clinical endocrinology and metabolism.
D. Lockhart,
R. Schiffmann,
Y. Lun,
2010,
The FEBS journal.
R. Schiffmann,
K. Hogan,
Ying-Hui Fu,
2006,
Nature Genetics.
R. Schiffmann,
M. S. van der Knaap,
Raphael Schiffmann,
2009,
Neurology.
R. Schiffmann,
S. Demeret,
F. Mochel,
2012,
Gene.
R. Schiffmann,
P. Kang,
D. Bali,
2023,
Molecular genetics and metabolism.
S. Dimauro,
R. Schiffmann,
I. Lerer,
2015,
JAMA neurology.
R. Schiffmann,
G. Tedeschi,
S. Bonavita,
2001,
Neurology.
Eric P Hoffman,
Raphael Schiffmann,
Kanneboyina Nagaraju,
2008,
Journal of proteome research.
R. Nussbaum,
R. Schiffmann,
E. Sidransky,
2004,
Journal of Medical Genetics.
E. Bertini,
R. Schiffmann,
D. Rodriguez,
2006,
Neurogenetics.
R. Schiffmann,
R. Brady,
J. R. Ellis,
2004,
Human mutation.
A. Paetau,
R. Schiffmann,
S. Blaser,
2007,
Neurology.
R. Schiffmann,
J. Schneider,
S. Goetsch,
2015,
Human molecular genetics.
R. Schiffmann,
R. Valabrègue,
L. Servais,
2015,
Journal of Neurology, Neurosurgery & Psychiatry.
L. Lagae,
A. Vanderver,
R. Schiffmann,
2013,
American journal of human genetics.
L. Lagae,
R. Schiffmann,
P. Pouwels,
2002,
AJNR. American journal of neuroradiology.
O. Elroy-Stein,
R. Schiffmann,
2020,
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.
A. Vanderver,
R. Schiffmann,
J. Thompson,
2010,
Neurology.
R. Schiffmann,
D. Adams,
M. Huizing,
2009,
Annals of neurology.
R. Schiffmann,
I. Krägeloh-Mann,
C. Florentz,
2007,
Nature Genetics.
R. Schiffmann,
R. Colvin,
O. Goker-Alpan,
2016
.
R. Schiffmann,
L. Lix,
A. Elkahloun,
2007,
Proceedings of the National Academy of Sciences.
R. Schiffmann,
S. Hazen,
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E. Bertini,
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A. Vanderver,
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Human molecular genetics.
R. Schiffmann,
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Blood cells, molecules & diseases.
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American journal of human genetics.
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Lancet Neurology.
L. Lagae,
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Thrombosis research.
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Journal of neurology, neurosurgery, and psychiatry.
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Clinical genetics.
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The Journal of Biological Chemistry.
A. Vanderver,
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Neurology.
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David F. Moore,
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Scientific Reports.
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Journal of Inherited Metabolic Disease.
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Molecular genetics and metabolism.
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Biochemical Society symposium.
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PharmacoEconomics.
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Pharmacogenetics and genomics.
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Journal of neuroimaging : official journal of the American Society of Neuroimaging.
UNIPARENTAL DISOMY OF CHROMOSOME 1 CAUSING CONCURRENT CHARCOT-MARIE-TOOTH AND GAUCHER DISEASE TYPE 3
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Neurology.
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Orphanet Journal of Rare Diseases.
R. Schiffmann,
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Kidney international.
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Nature Communications.
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A. Swensen,
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Electroencephalography and clinical neurophysiology.
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Advances in Therapy.
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BMC Women's Health.
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M. Floeter,
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Muscle & nerve.
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T. Bottiglieri,
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The American journal of cardiology.
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