Simon A. Jones
发表
J. H. van der Lee,
N. Mahlaoui,
M. Offringa,
2011,
Orphanet journal of rare diseases.
A. Shaywitz,
S. Parker,
B. Bigger,
2017,
Orphanet Journal of Rare Diseases.
A. Broomfield,
R. Wynn,
K. Stepien,
2017,
Journal of Inherited Metabolic Disease.
D. Marsden,
K. Tylee,
E. Kakkis,
2020,
Molecular genetics and metabolism.
S. Bardins,
C. Y. Tan,
A. Chakrapani,
2020,
Orphanet Journal of Rare Diseases.
B. Bigger,
F. Wilkinson,
J. E. Wraith,
2011,
PloS one.
Christopher M. Clouthier,
Y. Crow,
H. Blom,
2011,
American journal of human genetics.
T. Schiano,
B. Thurberg,
M. Wasserstein,
2016,
The American journal of surgical pathology.
T. Aslam,
J. Ashworth,
R. Wynn,
2018,
Acta ophthalmologica.
J. E. Wraith,
D. Bonney,
K. Tylee,
2013,
Journal of Inherited Metabolic Disease.
A. Vail,
C. O’Leary,
B. Bigger,
2021,
Journal of inherited metabolic disease.
C. O’Leary,
B. Bigger,
R. Holley,
2019,
Molecular therapy. Methods & clinical development.
J. H. van der Lee,
D. Eastwood,
K. White,
2019,
Orphanet Journal of Rare Diseases.
J. H. van der Lee,
K. White,
R. Sakkers,
2013,
Orphanet Journal of Rare Diseases.
F. Farzaneh,
A. Biffi,
B. Bigger,
2019,
Molecular therapy. Methods & clinical development.
W. Yue,
A. Broomfield,
C. Beesley,
2017,
Human mutation.
R. Donn,
Yifen Liu,
H. Soran,
2020,
Orphanet Journal of Rare Diseases.
John J. Mitchell,
Y. Eto,
C. Hendriksz,
2019,
Orphanet Journal of Rare Diseases.
John J. Mitchell,
A. Shaywitz,
M. Tarnopolsky,
2018,
JIMD reports.
D. Brough,
H. Boutin,
C. O’Leary,
2020,
EMBO molecular medicine.
John J. Mitchell,
A. Shaywitz,
M. Tarnopolsky,
2015,
American journal of medical genetics. Part A.
E. Jameson,
T. Remmington,
Simon A. Jones,
2019,
The Cochrane database of systematic reviews.
John J. Mitchell,
P. Slasor,
B. Burton,
2015,
Molecular genetics and metabolism.
W. Hwu,
K. Swoboda,
T. Okuyama,
2017,
Pediatrics.
D. Dimmock,
D. Bali,
A. Rosenberg,
2012,
Genetics in Medicine.
B. Bigger,
F. Wilkinson,
J. E. Wraith,
2013,
PloS one.
D. Ory,
W. Griffiths,
Yuqin Wang,
2019,
Free radical biology & medicine.
B. Bigger,
D. Hare,
J. E. Wraith,
2014,
PloS one.
Simon A. Jones,
Simon A Jones,
2013
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W. Griffiths,
Yuqin Wang,
B. Bigger,
2018,
Journal of Lipid Research.
J. Boelens,
R. Wynn,
Simon A. Jones,
2019,
Front. Pediatr..
B. Burton,
R. Giugliani,
O. Bodamer,
2011,
European Journal of Pediatrics.
A. Brassier,
S. Fecarotta,
S. Vijay,
2020,
Orphanet Journal of Rare Diseases.
A. Shaywitz,
M. Bialer,
P. Harmatz,
2015,
Pediatric Research.
P. Hensman,
E. Jameson,
J. Ashworth,
2016,
The Journal of pediatrics.
W. Newman,
C. Beetz,
K. Tylee,
2016,
Human Genome Variation.
C. Hendriksz,
S. Santra,
Yulan Qi,
2018,
Molecular genetics and metabolism.
Simon A. Jones,
F. White,
Simon A Jones,
2011,
Journal of Inherited Metabolic Disease.
C. O’Neill,
A. Grover,
Simon A. Jones,
2020
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J. E. Wraith,
M. Beck,
M. Beck,
2010,
Journal of Inherited Metabolic Disease.
S. Marie,
W. Robberecht,
B. Engelen,
2012,
Human mutation.
B. Burton,
V. Jego,
Simon A. Jones,
2017,
Journal of Inherited Metabolic Disease.
T. Fleming,
B. Burton,
C. Hendriksz,
2013
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L. de Meirleir,
J. Zeman,
P. Hensman,
2011,
Orphanet journal of rare diseases.
R. Wynn,
J. Mercer,
J. Wraith,
2009,
The Journal of pediatrics.
C. Hendriksz,
C. Lavery,
Simon A. Jones,
2017,
Orphanet Journal of Rare Diseases.
R. Giugliani,
P. Harmatz,
N. Guffon,
2018
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R. Giugliani,
P. Harmatz,
N. Guffon,
2014,
American journal of medical genetics. Part A.
I. Bruce,
P. Harmatz,
K. Belani,
2012,
Journal of Inherited Metabolic Disease.
A. Fischer,
J. Tolar,
J. Kurtzberg,
2015,
Blood.
Martin Smith,
M. Sarfraz,
J. Ashworth,
2021,
BMJ Case Reports.
T. Aslam,
J. Ashworth,
A. Javed,
2017,
Investigative ophthalmology & visual science.
J. E. Wraith,
C. Breen,
J. Mercer,
2013,
Molecular genetics and metabolism.
B. Bigger,
R. Wynn,
Arunabha Ghosh,
2016
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Y. Eto,
C. Hendriksz,
R. Giugliani,
2019,
Orphanet Journal of Rare Diseases.
V. Gallo,
S. Galimberti,
M. Valsecchi,
2021,
The New England journal of medicine.
C. Fullwood,
I. Bruce,
S. Wilkinson,
2019,
Molecular genetics and metabolism reports.
P. Sergouniotis,
T. Aslam,
J. Ashworth,
2018,
British Journal of Ophthalmology.
F. Wijburg,
Simon A. Jones,
Simon A Jones,
2016
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A. T. van der Ploeg,
P. V. van Hasselt,
F. Wijburg,
2015,
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.
J. Eisengart,
K. Rudser,
R. Giugliani,
2018,
Genetics in Medicine.
J. Eisengart,
K. Rudser,
R. Giugliani,
2018
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C. Phornphutkul,
C. Goizet,
D. Barbouth,
2015,
Orphanet Journal of Rare Diseases.
P. Veys,
M. Renard,
T. D. de Koning,
2017,
Blood advances.
B. Bigger,
I. Bruce,
J. Mercer,
2018,
PloS one.
D. Viskochil,
R. Giugliani,
T. Okuyama,
2019,
Clinical genetics.
A. Lehtonen,
D. Hare,
S. Rust,
2017,
JIMD reports.
M. Escolar,
E. Shapiro,
Simon A. Jones,
2017,
Molecular genetics and metabolism.
S. Jones,
D. Horovitz,
M. Escolar,
2017,
Molecular genetics and metabolism.
J. Tolar,
B. Bigger,
P. Orchard,
2016,
Molecular genetics and metabolism.
P. Callery,
I. Bruce,
A. Soni-Jaiswal,
2016
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E. Jameson,
S. Jones,
T. Remmington,
2016,
The Cochrane database of systematic reviews.
H. van Lenthe,
R. Geskus,
C. Hollak,
2015,
Molecular genetics and metabolism.
L. de Meirleir,
D. Ardigò,
A. Lund,
2018,
Journal of Inherited Metabolic Disease.
B. Burton,
K. White,
R. Giugliani,
2012,
Molecular Genetics and Metabolism.
Kees Hovingh,
Handrean Soran,
Emilio Ros,
2014,
Atherosclerosis.
J. H. van der Lee,
Darren T. Janzen,
R. Giugliani,
2017,
Molecular genetics and metabolism.
P. Orchard,
K. Poulton,
T. Lund,
2017
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P. Navas,
P. Clayton,
R. Artuch,
2015,
JIMD reports.
F. Platt,
C. Hendriksz,
R. Wynn,
2017,
JIMD reports.
B. Bigger,
I. Bruce,
F. Wijburg,
2015,
Orphanet Journal of Rare Diseases.
B. Bigger,
S. Howe,
F. Wilkinson,
2012,
Molecular therapy : the journal of the American Society of Gene Therapy.
J. E. Wraith,
A. Chakrapani,
A. Vellodi,
2010,
Journal of Inherited Metabolic Disease.
K. White,
R. Sakkers,
P. Orchard,
2016,
The Journal of bone and joint surgery. American volume.
N. Bishop,
J. E. Wraith,
J. Hawdon,
2012
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J. E. Wraith,
B. Bigger,
E. Cross,
2014,
Journal of Neurodevelopmental Disorders.
J. E. Wraith,
B. Bigger,
E. Cross,
2013,
Journal of Inherited Metabolic Disease.
A. Wittkowski,
D. Hare,
S. Rust,
2018,
British Journal of Learning Disabilities.
B. Bigger,
D. Hare,
M. Canal,
2015,
Journal of Neurodevelopmental Disorders.
J. E. Wraith,
J. Mcdermott,
B. Bigger,
2013,
Molecular therapy : the journal of the American Society of Gene Therapy.
J. Cooper,
S. Jones,
E. Kremer,
2012,
PloS one.
J. Baruteau,
J. Davison,
Simon A. Jones,
2020,
Journal of inherited metabolic disease.
B. Burton,
R. Steiner,
R. Giugliani,
2010,
Genetics in Medicine.
J. E. Wraith,
Jane Roberts,
S. Jones,
2008,
Journal of Inherited Metabolic Disease.
B. Burton,
R. Giugliani,
S. Jones,
2017,
Orphanet Journal of Rare Diseases.
John J. Mitchell,
P. Slasor,
B. Burton,
2013,
Molecular genetics and metabolism.
H. C. Beck,
P. Saftig,
F. Wibrand,
2013,
Journal of Inherited Metabolic Disease.
N. Williams,
L. Hubbard,
S. Zammit,
2019,
JAMA network open.
Robert W. Taylor,
M. Simpson,
R. Rodenburg,
2016,
American journal of human genetics.
Robert W. Taylor,
M. Simpson,
R. Rodenburg,
2016,
American journal of human genetics.
Robert W. Taylor,
M. Simpson,
R. Rodenburg,
2016
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Robert W. Taylor,
M. Simpson,
R. Rodenburg,
2022
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P. Haslett,
Y. Qiu,
F. Wijburg,
2016,
Molecular genetics and metabolism.
T. Fleming,
P. Slasor,
B. Burton,
2014,
Journal of Inherited Metabolic Disease.
C. Hendriksz,
S. Tomatsu,
P. Harmatz,
2013,
Molecular genetics and metabolism.
E. Jameson,
J. E. Wraith,
Elisabeth Jameson,
2013,
The Cochrane database of systematic reviews.
W. Newman,
A. Broomfield,
B. Bigger,
2021,
Orphanet Journal of Rare Diseases.
A. Schulz,
B. Gruhn,
B. Neven,
2023,
Bone Marrow Transplantation.
A. Brassier,
S. Fecarotta,
S. Vijay,
2021,
Orphanet Journal of Rare Diseases.
A. Broomfield,
K. Tylee,
Arunabha Ghosh,
2020
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J. Gargus,
S. Eckert,
A. Brassier,
2017,
Orphanet Journal of Rare Diseases.
J. E. Wraith,
B. Bigger,
S. Howe,
2012,
Molecular therapy : the journal of the American Society of Gene Therapy.
I. C. Lloyd,
J. Clayton-Smith,
S. Williams,
2016,
Ophthalmology.
R. Giugliani,
S. Jones,
P. Harmatz,
2013,
Molecular genetics and metabolism.
S. Bhaskar,
S. Banka,
S. Douzgou,
2017,
Archives of Disease in Childhood.
J. Gargus,
S. Cederbaum,
G. Enns,
2014
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M. Strupp,
H. Runz,
R. Lachmann,
2018,
Orphanet Journal of Rare Diseases.
E. Jacklin,
J. Imrie,
Simon A. Jones,
2010
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J. Casey,
A. Green,
S. Ennis,
2018,
Journal of Medical Genetics.
G. Enns,
J. Kane,
M. Balwani,
2013,
Hepatology.
C. Vrinten,
G. Ceccarini,
A. Federico,
2020,
Orphanet Journal of Rare Diseases.
Robert W. Taylor,
S. Mansour,
G. Saretzki,
2010,
Brain : a journal of neurology.
S. Prasad,
E. James,
Simon A. Jones,
2011,
Paediatric drugs.
S. Prasad,
E. James,
Simon A. Jones,
2011
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B. Byrne,
Y. Chien,
D. Stockton,
2014,
Journal of neuromuscular diseases.
A. Wittkowski,
E. Medford,
D. Hare,
2017,
JIMD reports.
Robert W. Taylor,
H. Smeets,
P. Bonnen,
2019,
Annals of clinical and translational neurology.
Jane Roberts,
J. Mercer,
Simon A. Jones,
2017,
Molecular genetics and metabolism reports.
John J. Mitchell,
A. Shaywitz,
V. Sutton,
2017
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J. Petty,
B. Bigger,
J. E. Wraith,
2010,
Journal of Inherited Metabolic Disease.
J. E. Wraith,
B. Bigger,
E. Cross,
2022,
CABI Compendium.
C. Hendriksz,
E. Murphy,
D. Hughes,
2018
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C. Hendriksz,
C. O’Neill,
L. Tsuruda,
2012
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C. Hendriksz,
A. Vellodi,
C. Decker,
2012
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B. Bigger,
D. Weisberg,
S. Rust,
2019,
Molecular Genetics and Metabolism.
G. Diaz,
R. Giugliani,
P. Fraser,
2021,
Genetics in Medicine.
R. Giugliani,
P. Mistry,
C. Dionisi-Vici,
2020,
Molecular genetics and metabolism.
E. Shamiyeh,
G. Diaz,
H. Soran,
2015,
Molecular genetics and metabolism.
F. Wijburg,
S. Rust,
E. Shapiro,
2021,
Molecular genetics and metabolism.
S. Schneider,
J. Raethjen,
U. Ramaswami,
2021,
Journal of Neurology.
M. Patterson,
B. Bembi,
P. Gissen,
2021,
Orphanet Journal of Rare Diseases.
B. Bigger,
R. Wynn,
Simon A. Jones,
2022,
International journal of molecular sciences.
K. Bhattacharya,
B. Wilcken,
P. Shaw,
2021,
JIMD reports.
J. E. Wraith,
I. Bruce,
J. Nichani,
2013,
International journal of pediatric otorhinolaryngology.
P. Veys,
M. Renard,
T. D. de Koning,
2017,
Blood advances.
B. Bigger,
I. Bruce,
Abhijit Pal,
2015
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P. Sergouniotis,
T. Aslam,
J. Ashworth,
2018,
British Journal of Ophthalmology.
P. Williamson,
I. Bruce,
S. Wilkinson,
2019
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P. Williamson,
I. Bruce,
S. Wilkinson,
2019,
Journal of Inborn Errors of Metabolism and Screening.
P. Orchard,
R. Chiesa,
D. Loes,
2021,
Blood advances.
R. Giugliani,
P. Harmatz,
R. Parini,
2013,
Molecular genetics and metabolism.
John J. Mitchell,
P. Slasor,
B. Burton,
2015,
Molecular genetics and metabolism.
A. Wittkowski,
E. Medford,
D. Hare,
2018,
Journal of Genetic Counseling.
A. Broomfield,
I. Bruce,
S. Wilkinson,
2019,
JIMD reports.
S. Prasad,
E. James,
Simon A. Jones,
2012
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