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Sumit Parikh MD
Sumit Parikh MD
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Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
Phenotypic heterogeneity of genomic disorders and rare copy-number variants
S Girirajan, JA Rosenfeld, BP Coe, S Parikh, N Friedman, A Goldstein, ...
New England Journal of Medicine 367 (14), 1321-1331, 2012
6112012
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
S Parikh, A Goldstein, MK Koenig, F Scaglia, GM Enns, R Saneto, ...
Genetics in Medicine 17 (9), 689-701, 2015
5552015
The in-depth evaluation of suspected mitochondrial disease
TMMS Committee, RH Haas, S Parikh, MJ Falk, RP Saneto, NI Wolf, ...
Molecular genetics and metabolism 94 (1), 16-37, 2008
4452008
A modern approach to the treatment of mitochondrial disease
S Parikh, R Saneto, MJ Falk, I Anselm, BH Cohen, R Haas, ...
Current treatment options in neurology 11 (6), 414-430, 2009
3892009
Mitochondrial disease: a practical approach for primary care physicians
RH Haas, S Parikh, MJ Falk, RP Saneto, NI Wolf, N Darin, BH Cohen
Pediatrics 120 (6), 1326-1333, 2007
3352007
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
S Parikh, A Goldstein, A Karaa, MK Koenig, I Anselm, C Brunel-Guitton, ...
Genetics in Medicine 19 (12), 1380-1397, 2017
2822017
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
S Parikh, G Bernard, RJ Leventer, MS van der Knaap, J van Hove, ...
Molecular genetics and metabolism 114 (4), 501-515, 2015
1972015
An international classification of inherited metabolic disorders (ICIMD)
CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ...
Journal of inherited metabolic disease 44 (1), 164-177, 2021
1612021
Whole exome sequencing in patients with white matter abnormalities
A Vanderver, C Simons, G Helman, J Crawford, NI Wolf, G Bernard, ...
Annals of neurology 79 (6), 1031-1037, 2016
1472016
Development and validation of objective and quantitative eye tracking− based measures of autism risk and symptom levels
TW Frazier, EW Klingemier, S Parikh, L Speer, MS Strauss, C Eng, ...
Journal of the American Academy of Child & Adolescent Psychiatry 57 (11 …, 2018
1452018
Recommendations for the management of strokelike episodes in patients with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes
MK Koenig, L Emrick, A Karaa, M Korson, F Scaglia, S Parikh, A Goldstein
JAMA neurology 73 (5), 591-594, 2016
1232016
Treatment of mitochondrial disorders
S Avula, S Parikh, S Demarest, J Kurz, A Gropman
Current treatment options in neurology 16, 1-20, 2014
1142014
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development
ST Demarest, HE Olson, A Moss, E Pestana‐Knight, X Zhang, S Parikh, ...
Epilepsia 60 (8), 1733-1742, 2019
1122019
Implementation of clinical pharmacogenomics within a large health system: from electronic health record decision support to consultation services
JK Hicks, D Stowe, MA Willner, M Wai, T Daly, SM Gordon, BA Lashner, ...
Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy 36 (8 …, 2016
1112016
Efficacy of low-dose buspirone for restricted and repetitive behavior in young children with autism spectrum disorder: a randomized trial
DC Chugani, HT Chugani, M Wiznitzer, S Parikh, PA Evans, RL Hansen, ...
The Journal of pediatrics 170, 45-53. e4, 2016
1092016
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy
JL Wagnon, BS Barker, JA Hounshell, CA Haaxma, A Shealy, T Moss, ...
Annals of clinical and translational neurology 3 (2), 114-123, 2016
1062016
Development of an objective autism risk index using remote eye tracking
TW Frazier, EW Klingemier, M Beukemann, L Speer, L Markowitz, ...
Journal of the American Academy of Child & Adolescent Psychiatry 55 (4), 301-309, 2016
822016
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation
VA Gennarino, CE Alcott, CA Chen, A Chaudhury, MA Gillentine, ...
Elife 4, e10782, 2015
772015
The minimal access deep plane extended vertical facelift
AA Jacono, SS Parikh
Aesthetic Surgery Journal 31 (8), 874-890, 2011
742011
Frequency analysis of large CAG/CTG trinucleotide repeats in schizophrenia and bipolar affective disorder.
JB Vincent, T Klempan, SS Parikh, T Sasaki, HY Meltzer, G Sirugo, P Cola, ...
Molecular psychiatry 1 (2), 141-148, 1996
721996
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