V. Kimonis
发表
Ellen F. Macnamara,
C. Toro,
W. Gahl,
2016,
Genetics in Medicine.
J. Taylor,
V. Kimonis,
T. Yao,
2010,
Autophagy.
R. Chadwick,
A. Busch,
M. Vawter,
2014,
Journal of Medical Genetics.
C. Shaw,
A. Beaudet,
S. Waisbren,
2007,
European Journal of Human Genetics.
V. Kimonis,
Ryan B. Mahoney,
Grace K. Lee,
2021,
Molecular Genetics and Metabolism Reports.
B. V. van Bon,
A. Hoischen,
J. Lupski,
2016,
American journal of human genetics.
A. R. Porras,
I. Krantz,
E. Roeder,
2019,
American journal of medical genetics. Part A.
V. Kimonis,
V. Caiozzo,
A. Nalbandian,
2013,
PloS one.
V. Kimonis,
J. Mukherjee,
J. Vesa,
2013,
Muscle & nerve.
V. Kimonis,
J. Mukherjee,
J. Vesa,
2013
.
D. Wallace,
V. Kimonis,
H. Su,
2010,
PloS one.
V. Kimonis,
D. Piomelli,
K. Jung,
2014,
Human molecular genetics.
V. Kimonis,
Michael C. Schneider,
A. Talisetti,
2003,
Clinical dysmorphology.
E. Hoffman,
V. Kimonis,
J. Vesa,
2015,
Clinical and translational science.
V. Kimonis,
K. Osann,
P. Flodman,
2019,
American journal of medical genetics. Part A.
D. Nosi,
A. Federico,
V. Kimonis,
2005,
Human mutation.
Charles D. Smith,
V. Kimonis,
A. Wang,
2018,
Clinical genetics.
Charles D. Smith,
V. Kimonis,
J. Mukherjee,
2011,
Journal of Molecular Neuroscience.
V. Kimonis,
S. Donkervoort,
G. Watts,
2011
.
Charles D. Smith,
D. Wallace,
V. Kimonis,
2011
.
Charles D. Smith,
D. Wallace,
V. Kimonis,
2009,
Neuromuscular Disorders.
A. Pestronk,
V. Kimonis,
C. Weihl,
2009,
Neuromuscular Disorders.
V. Kimonis,
J. Vesa,
E. Fulchiero,
2008,
Biochimica et biophysica acta.
E. Wanker,
A. Noegel,
V. Kimonis,
2007,
Brain : a journal of neurology.
K. Fliessbach,
S. Mehta,
V. Hans,
2005,
Annals of neurology.
J. Svendsen,
V. Kimonis,
T. Šarić,
2013,
Circulation. Cardiovascular genetics.
D. J. Driscoll,
Hye-Seung Lee,
W. Kaufmann,
2021,
bioRxiv.
A. Lakatos,
V. Kimonis,
M. Butler,
2018,
American journal of medical genetics. Part A.
D. C. Driscoll,
D. J. Driscoll,
J. Shuster,
2011,
American journal of medical genetics. Part A.
A. Paganini-Hill,
V. Kimonis,
M. Fisher,
2021,
Molecular genetics and metabolism reports.
Charles D. Smith,
V. Kimonis,
Mari Perez‐Rosendahl,
2021,
Orphanet Journal of Rare Diseases.
L. BenMohamed,
V. Kimonis,
F. Zaldivar,
2014,
Clinical and translational science.
R. Myers,
H. Akil,
A. Schatzberg,
2019,
Nucleic acids research.
Charles D. Smith,
S. Mehta,
M. Forman,
2008,
American journal of medical genetics. Part A.
V. Kimonis,
C. Weihl,
R. Fanganiello,
2022,
Genes.
M. Lamers,
V. Kimonis,
A. Ferlini,
2019,
Journal of Medical Genetics.
V. Kimonis,
A. Nalbandian,
K. Llewellyn,
2015,
Neurobiology of Disease.
Mark Hallett,
John Hardy,
Andrew B Singleton,
2006,
Brain : a journal of neurology.
V. Kimonis,
2001,
Journal of Inherited Metabolic Disease.
J. Mulliken,
D. Levine,
F. Quintero-Rivera,
2006,
American journal of medical genetics. Part A.
V. Kimonis,
S. Boyadjiev,
J. Panchal,
2007,
Seminars in pediatric neurology.
V. Kimonis,
Jennifer L Miller,
J. Gold,
2018
.
R. Edwards,
V. Kimonis,
N. Khanlou,
2012,
PloS one.
V. Kimonis,
H. Su,
J. Vesa,
2015,
Mitochondrion.
Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy.
V. Kimonis,
D. Piomelli,
K. Jung,
2020,
Human molecular genetics.
Bai-Lin Wu,
V. Kimonis,
T. Sahoo,
2006,
American journal of medical genetics. Part A.
V. Kimonis,
H. Baris,
W. Tan,
2005,
American journal of medical genetics. Part A.
A. Goldstein,
S. Bale,
V. Kimonis,
1997,
American journal of medical genetics.
J. Tehranzadeh,
V. Kimonis,
K. Osann,
2012,
Skeletal Radiology.
V. Kimonis,
D. Piomelli,
K. Jung,
2017,
Pharmacological research.
J. Lupski,
R. Gibbs,
D. Muzny,
2022,
Human mutation.
Emily A. Scarborough,
J. Trojanowski,
A. Pestronk,
2013
.
D. Tibboel,
C. Shaw-Smith,
P. Giampietro,
2012,
American journal of medical genetics. Part A.
Charles D. Smith,
V. Kimonis,
J. Vesa,
2011
.
Charles D. Smith,
V. Kimonis,
D. Lombardo,
2021,
Neuromuscular Disorders.
R. Edwards,
V. Kimonis,
N. Khanlou,
2012,
PloS one.
S. Bale,
V. Kimonis,
J. DiGiovanna,
2012,
Genetics in Medicine.
G. Mortier,
C. Robson,
V. Kimonis,
2007,
American journal of medical genetics. Part A.
V. Kimonis,
B. Udd,
Sha Tang,
2019,
Neurology: Genetics.
V. Kimonis,
Sha Tang,
A. Vihola,
2022
.
V. Kimonis,
S. Donkervoort,
V. Caiozzo,
2018,
Neuromuscular Disorders.
K. Cortese,
V. Kimonis,
U. Pandey,
2022,
Neuropathology and applied neurobiology.
Sruthi S. Nair,
K. Claeys,
E. Malfatti,
2022,
Journal of Neurology, Neurosurgery, and Psychiatry.
V. Kimonis,
M. Kitazawa,
D. Tran,
2016,
The American journal of pathology.
V. Kimonis,
A. Nalbandian,
R. Chilcote,
2014
.
V. Kimonis,
J. Vesa,
V. Caiozzo,
2013
.
M. Passos-Bueno,
R. Nitrini,
V. Kimonis,
2011,
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.
A. Pestronk,
V. Kimonis,
G. Watts,
2003,
Neuromuscular Disorders.
K. Palczewski,
V. Kimonis,
A. Koskelainen,
2021,
The Journal of Pharmacology and Experimental Therapeutics.
V. Kimonis,
J. Weiss,
T. Mozaffar,
2012,
Cell Death and Disease.
V. Kimonis,
E. Monuki,
A. Nalbandian,
2015,
Human gene therapy methods.
V. Kimonis,
D. Gelber,
R. Khardori,
2002,
American journal of medical genetics.
S. Mehta,
S. Bale,
V. Kimonis,
2004,
Genetics in Medicine.
V. Kimonis,
M. Butler,
R. Mahmoud,
2022,
International journal of molecular sciences.
V. Kimonis,
B. Solomon,
B. Lemieux,
2018,
American journal of medical genetics. Part A.
J. Uitto,
V. Kimonis,
L. Pulkkinen,
1997,
Human molecular genetics.
S. Bale,
V. Kimonis,
Jun-Mo Yang,
1994,
The Journal of investigative dermatology.
V. Kimonis,
V. Caiozzo,
S. Radom-Aizik,
2022,
Neuromuscular Disorders.
D. J. Driscoll,
V. Kimonis,
M. Butler,
2020,
Genes.
Joshua L. Deignan,
J. Ringman,
V. Kimonis,
2019,
Neuroscience Letters.
A. Lakatos,
V. Kimonis,
D. Bali,
2019,
Annals of translational medicine.
S. Waisbren,
L. Bird,
V. Kimonis,
2019
.
V. Kimonis,
R. E. Jonas,
2001,
American journal of medical genetics.
D. J. Driscoll,
V. Kimonis,
M. Butler,
2017,
American journal of medical genetics. Part A.
V. Kimonis,
A. Lin,
Kathryn E. Singh,
2011,
American journal of medical genetics. Part A.
E. Zackai,
C. Brewer,
B. Solomon,
2007
.
V. Kimonis,
M. Tang,
J. Gargus,
2020,
Molecular genetics and metabolism reports.
V. Kimonis,
A. Naidu,
Hiba Risheg,
2017,
Journal of clinical research in pediatric endocrinology.
S. Nelson,
V. Kimonis,
P. Sanchez-Lara,
2021,
Journal of Medical Genetics.
D. J. Driscoll,
V. Kimonis,
M. Butler,
2018,
Journal of Medical Genetics.
H. Moser,
S. Dimauro,
A. Hamosh,
2005,
Annals of neurology.
V. Kimonis,
Moyra J. Smith,
K. Osann,
2019,
Mitochondrion.
E. Hoffman,
D. Wallace,
V. Kimonis,
2013,
Clinical and translational science.
D. Wallace,
V. Kimonis,
P. G. Yazdi,
2013
.
D. J. Driscoll,
V. Kimonis,
M. Butler,
2019,
American journal of medical genetics. Part A.
S. Wells,
E. Hatchwell,
J. Cleak,
2022,
Orphanet Journal of Rare Diseases.
V. Kimonis,
J. Balk,
Andrew E. Maclean,
2018,
bioRxiv.
V. Kimonis,
Sha Tang,
L. Hasadsri,
2019,
Clinical Neurology and Neurosurgery.
V. Kimonis,
E. McCabe,
W. Kulik,
2013,
JIMD reports.
J. Stoler,
V. Kimonis,
M. Cunningham,
2012,
Human mutation.
V. Kimonis,
Taosheng Huang,
J. Whang,
2006,
Genetics in Medicine.
D. J. Driscoll,
V. Kimonis,
M. Butler,
2018,
Journal of Medical Genetics.
V. Kimonis,
M. Pahl,
D. Lombardo,
2022,
Molecular genetics and metabolism reports.
V. Kimonis,
W. Lau,
K. Hall,
2020,
The American journal of the medical sciences.
Renzo Guerrini,
William B Dobyns,
Dawn Earl,
2006,
American journal of medical genetics. Part A.
V. Kimonis,
S. Forrester,
M. J. Kovach,
2002,
American journal of medical genetics.
V. Kimonis,
P. Abbona,
Stephani C Wang,
2022,
European journal of medical genetics.
D. Ledbetter,
C. Martin,
K. Millen,
2003,
European Journal of Human Genetics.
D. J. Driscoll,
V. Kimonis,
M. Butler,
2019,
Genes.
J. Troendle,
W. Gahl,
T. Markello,
1995,
The Journal of clinical endocrinology and metabolism.
V. Kimonis,
Caroline C. Kim,
M. Liang,
2007,
Pediatric dermatology.
V. Kimonis,
E. Neilan,
Y. Pikman,
2006,
Ophthalmic genetics.
V. Kimonis,
Hanns Lochmüller,
C. Weihl,
2016,
Neuromuscular Disorders.
H. Djalilian,
V. Kimonis,
H. Mahboubi,
2012,
European Archives of Oto-Rhino-Laryngology.
V. Schramm,
S. Mehta,
J. Martignetti,
2012,
American journal of human genetics.
B. Chung,
B. Fernandez,
R. Weksberg,
2013,
American journal of medical genetics. Part A.
A. Pestronk,
S. Mehta,
V. Kimonis,
2004,
Nature Genetics.
V. Kimonis,
P. G. Yazdi,
A. Nalbandian,
2015,
PloS one.
V. Kimonis,
R. Owen,
Kathryn E. Singh,
2014,
American journal of medical genetics. Part A.
Alexander F. Wilson,
A. F. Wilson,
J. Richtsmeier,
2012,
Nature Genetics.
Alexander F. Wilson,
A. F. Wilson,
J. Richtsmeier,
2012
.
L. Shaffer,
J. Lupski,
W. Meschino,
2000,
Nature Genetics.
F. Alkuraya,
V. Kimonis,
A. Lin,
2005,
American journal of medical genetics. Part A.
V. Kimonis,
H. Keirstead,
A. Nalbandian,
2014
.
Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature
V. Kimonis,
A. Roberts,
A. Lamb,
2004,
American journal of medical genetics. Part A.
Michael Benatar,
Steven A Greenberg,
Aaron D Gitler,
2013,
Nature.
D. Wallace,
V. Kimonis,
V. Procaccio,
2011,
Neuroscience Letters.
S. Leal,
V. Kimonis,
D. Gelber,
2000,
Genetics in Medicine.
P. Donahoe,
L. Holmes,
C. Lee,
2006,
American journal of medical genetics. Part A.
R. Hennekam,
L. Biesecker,
J. Graham,
2010,
Human mutation.
Richard L Robertson,
Fowzan S Alkuraya,
Cynthia C Morton,
2009,
American journal of medical genetics. Part A.
D. J. Driscoll,
Hye-Seung Lee,
V. Kimonis,
2013,
Genetics in Medicine.
D. J. Driscoll,
Hye-Seung Lee,
V. Kimonis,
2013,
Genetics in Medicine.
V. Kimonis,
D. Stevenson,
M. Butler,
2019,
American journal of medical genetics. Part A.
J. Rosenfeld,
E. Roeder,
F. Xia,
2016,
Human mutation.
V. Kimonis,
K. Osann,
P. Flodman,
2013,
Genetics in Medicine.
E. Zackai,
C. Brewer,
B. Solomon,
2007,
American journal of medical genetics. Part A.
V. Kimonis,
P. Hawley,
M. Shaham,
2006,
Birth defects research. Part A, Clinical and molecular teratology.
S. Greenberg,
V. Kimonis,
A. Amato,
2007,
Muscle & nerve.
V. Kimonis,
H. Baris,
W. Tan,
2007,
American journal of medical genetics. Part A.
V. Kimonis,
M. Schneider,
S. Forrester,
2000,
American journal of medical genetics.
D. J. Driscoll,
V. Kimonis,
M. Butler,
2018,
American journal of medical genetics. Part A.
V. Kimonis,
M. Butler,
Vy Dang,
2016,
Cytogenetic and Genome Research.
D. J. Driscoll,
V. Kimonis,
M. Butler,
2012,
Genetic testing and molecular biomarkers.
Ruchi Srivastava,
Arif A. Khan,
L. BenMohamed,
2016,
Inflammation.
M. Listewnik,
J. Mulliken,
C. Morton,
2004,
American Journal of Medical Genetics. Part A.
V. Kimonis,
T. Mozaffar,
M. Korb,
2020,
Muscle & nerve.
L. Hughes,
V. Kimonis,
D. Gelber,
2002,
American journal of medical genetics.
E. Jabs,
V. Kimonis,
D. Gelber,
1999,
American journal of human genetics.
L. Shaffer,
B. Ballif,
B. Bejjani,
2006,
American journal of medical genetics. Part A.
E. Roeder,
Ankita Patel,
S. Cheung,
2015,
BMC Medical Genetics.
Charles D. Smith,
E. Hoffman,
V. Kimonis,
2012,
Clinical and translational science.
Rune R. Frants,
Peter J. Donovan,
Xiangduo Kong,
2009,
PLoS genetics.
Mark A. Levenstien,
S. Leal,
A. Pestronk,
2001,
Molecular genetics and metabolism.
J. Mulliken,
D. Levine,
F. Quintero-Rivera,
2006,
Prenatal diagnosis.
R. Elble,
V. Kimonis,
C. Higgins,
2001,
Genetics in medicine : official journal of the American College of Medical Genetics.
H. Yoshioka,
M. Grafe,
A. Lakatos,
2018,
Neuromuscular Disorders.
S. Mehta,
V. Kimonis,
S. Mumm,
2006,
American journal of medical genetics. Part A.
V. Kimonis,
A. Morales,
R. E. Jonas,
1997,
American journal of medical genetics.
V. Kimonis,
Abhilasha Surampalli,
M. Khare,
2014
.
A. Pestronk,
P. Hanson,
M. Forman,
2008,
Journal of Neurology, Neurosurgery, and Psychiatry.
A. Beaudet,
S. Waisbren,
L. Bird,
2010,
American journal of medical genetics. Part A.
V. Kimonis,
N. Reynolds,
S. Forrester,
2001,
American journal of medical genetics.
V. Kimonis,
A. Torres,
V. Sheen,
2010,
American journal of medical genetics. Part A.
Charles D. Smith,
J. Karlawish,
A. Pestronk,
2006,
Journal of neuropathology and experimental neurology.
D. J. Driscoll,
V. Kimonis,
M. Butler,
2022,
Journal of clinical medicine.
V. Kimonis,
M. Butler,
S. Cassidy,
2019,
American journal of medical genetics. Part A.
D. J. Driscoll,
V. Kimonis,
M. Butler,
2016,
Clinical pediatrics.
D. J. Driscoll,
V. Kimonis,
M. Butler,
2011,
Pediatrics.
V. Kimonis,
John Billimek,
A. Pontello,
2014,
Journal of pediatric endocrinology & metabolism : JPEM.
B. Asselbergh,
V. Kimonis,
V. Mouly,
2023,
Autophagy.
F. Alkuraya,
V. Kimonis,
Laura Holt,
2005,
American journal of medical genetics. Part A.
V. Kimonis,
S. Cassidy,
J. Gold,
2018,
American journal of medical genetics. Part A.
V. Kimonis,
Kathryn E. Singh,
R. Lebel,
2017,
American journal of medical genetics. Part A.
V. Kimonis,
M. Butler,
R. Mahmoud,
2023,
International journal of molecular sciences.
Charles D. Smith,
D. Wallace,
V. Kimonis,
2015,
Journal of Genetic Counseling.
J. Thakuria,
J. Mulliken,
V. Kimonis,
2008,
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.
V. Kimonis,
J. Gold,
Abhilasha Surampalli,
2019,
PloS one.
T. de Ravel,
R. Hennekam,
J. Clayton-Smith,
2008,
Human mutation.
C. Wanner,
V. Kimonis,
D. Warnock,
2022,
Molecular genetics and metabolism reports.
A. Hasso,
J. Gargus,
V. Kimonis,
2014
.
V. Kimonis,
K. Kompoliti,
Alana E. Kirby,
2021,
Neurology: Genetics.
V. Kimonis,
H. Baris,
H. Levy,
2005,
Journal of child neurology.
A. Hasso,
J. Gargus,
V. Kimonis,
2013,
Neuropediatrics.
Y. Chien,
V. Kimonis,
N. Leslie,
2019,
Human mutation.
L. BenMohamed,
V. Kimonis,
A. Nalbandian,
2015,
PloS one.
F. Quintero-Rivera,
V. Kimonis,
M. Weiss,
2023,
Genes.
V. Kimonis,
I. Lott,
Apiradee Lim,
2021,
European Journal of Medical Genetics.
V. Kimonis,
Lan Weiss,
Cheng Cheng,
2020,
Biochemical and Biophysical Research Communications - BBRC.
J. Bronstein,
V. Kimonis,
P. Shieh,
2012,
Parkinsonism & related disorders.
V. Kimonis,
M. Milone,
T. Stojkovic,
2023,
Annals of clinical and translational neurology.
V. Kimonis,
K. Hurth,
Christina M Laukaitis,
2023,
Neurology: Genetics.
R. Castellani,
V. Kimonis,
R. Kim,
2015,
Alzheimer disease and associated disorders.
W. Seeley,
A. Al-Chalabi,
A. Obenaus,
2022,
Orphanet Journal of Rare Diseases.
D. J. Driscoll,
V. Kimonis,
M. Butler,
2009,
Journal of Assisted Reproduction and Genetics.
V. Kimonis,
D. Tapia,
2020,
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.
E. W. Lloyd,
V. Kimonis,
S. Mumm,
2020,
JBJS case connector.
S. Mehta,
Chengfeng Zhao,
V. Kimonis,
2005,
Human Genetics.
Charles D. Smith,
S. Mehta,
M. Hutton,
2007,
Genetics in Medicine.
V. Kimonis,
Virginia E Kimonis,
Giles D J Watts,
2005,
Alzheimer disease and associated disorders.
V. Kimonis,
Meredith Jones,
J. Chung,
2017,
Clinical Dysmorphology.
J. Mulliken,
V. Kimonis,
F. Bonilla,
2009,
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.
Sitao Wu,
E. Hatchwell,
A. Hasso,
2020,
Journal of Medical Genetics.
D. J. Driscoll,
Hye-Seung Lee,
W. Kaufmann,
2021,
Pediatric neurology.
D. J. Driscoll,
V. Kimonis,
M. Butler,
2021,
Clinical genetics.
Daniel J Driscoll,
D. J. Driscoll,
Jaehoon Lee,
2015,
Pediatrics.
C. Ponting,
N. Sebire,
L. Sánchez-Pulido,
2013,
The British journal of dermatology.
V. Kimonis,
Jing-Ping Lin,
A. Avakian,
2000,
Genetics in Medicine.
S. Waisbren,
L. Bird,
V. Kimonis,
2019,
Orphanet journal of rare diseases.
Ruchi Srivastava,
Arif A. Khan,
L. BenMohamed,
2017,
Inflammation.
F. Alkuraya,
V. Kimonis,
C. L. Martin,
2006,
Prenatal diagnosis.
V. Kimonis,
J. Cox,
P. Kelly,
2006
.
VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy
K. Palczewski,
V. Kimonis,
J. Weiss,
2022,
Journal of translational medicine.
Vanessa M. Scarfone,
V. Kimonis,
A. Nalbandian,
2017,
PloS one.
Charles D. Smith,
Hon J. Yu,
R. Castellani,
2015,
Neuromuscular Disorders.
S. Mehta,
L. Hocking,
S. Ralston,
2006,
Bone.
V. Kimonis,
S. Forrester,
Michaela Schneider,
2004,
American journal of medical genetics. Part A.
A. Lakatos,
V. Kimonis,
M. Pahl,
2020,
Molecular genetics and metabolism reports.
Adam L. Maclean,
S. Harper,
J. Jaiswal,
2023,
Science advances.
C. Robson,
V. Kimonis,
H. Baris,
2005,
American journal of medical genetics. Part A.
V. Kimonis,
M. Nguyen,
J. Plewa,
2020,
Clinical and Experimental Investigations.
H. Taguchi,
W. Lau,
R. Klevit,
2023,
Cell stress & chaperones.
F. Alkuraya,
V. Kimonis,
J. Picker,
2005,
Birth defects research. Part A, Clinical and molecular teratology.
V. Kimonis,
Michael C. Schneider,
A. Talisetti,
2003,
Clinical dysmorphology.
Adam L. Maclean,
S. Harper,
J. Jaiswal,
2023,
bioRxiv.
V. Kimonis,
Victoria Boock,
Bhaskar Roy,
2023,
Current opinion in neurology.
V. Kimonis,
V. Caiozzo,
S. Radom-Aizik,
2021,
Neuromuscular Disorders.
Adam L. Maclean,
S. Harper,
J. Jaiswal,
2023,
Science advances.
H. Freeze,
V. Kimonis,
N. Gallant,
2019,
American Journal of Medical Genetics. Part A.
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