অনুসন্ধান ফলাফলগুলি - Sumit Parikh
- প্রদর্শন 1 - 20 ফলাফল এর 25
- পরবর্তী পৃষ্ঠায় যান
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Treatment of Mitochondrial Disorders অনুযায়ী Sreenivas Avula, Sumit Parikh, Scott Demarest, Jonathan E. Kurz, Andrea Gropman
প্রকাশিত 2014Artigo -
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Relationship between health-related quality of life, comorbidities and acute health care utilisation, in adults with chronic conditions অনুযায়ী Anastasia Hutchinson, Marnie Graco, Tshepo Rasekaba, Sumit Parikh, David J. Berlowitz, Wen Kwang Lim
প্রকাশিত 2015Artigo -
3
A modern approach to the treatment of mitochondrial disease অনুযায়ী Sumit Parikh, Russell P. Saneto, Marni J. Falk, Irina Anselm, Bruce H. Cohen, Richard Haas
প্রকাশিত 2009Artigo -
4
Development and Validation of Objective and Quantitative Eye Tracking−Based Measures of Autism Risk and Symptom Levels অনুযায়ী Thomas Frazier, Eric W. Klingemier, Sumit Parikh, Leslie Speer, Mark Strauss, Charis Eng, Antonio Y. Hardan, Eric A. Youngstrom
প্রকাশিত 2018Artigo -
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Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH অনুযায়ী Nicholas J. Neill, Blake C. Ballif, Allen N. Lamb, Sumit Parikh, J. Britt Ravnan, Roger A. Schultz, Beth S. Torchia, Jill A. Rosenfeld, Lisa G. Shaffer
প্রকাশিত 2011Artigo -
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Pathogenic mechanism of recurrent mutations of <scp><i>SCN8A</i></scp> in epileptic encephalopathy অনুযায়ী Jacy L. Wagnon, Bryan S. Barker, James A. Hounshell, Charlotte A. Haaxma, Amy Shealy, Timothy Moss, Sumit Parikh, Ricka Messer, Manoj K. Patel, Miriam H. Meisler
প্রকাশিত 2015Artigo -
8
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies অনুযায়ী Sumit Parikh, Geneviève Bernard, Richard J. Leventer, Marjo S. van der Knaap, Johan Van Hove, Amy Pizzino, Nathan H. McNeill, Guy Helman, Cas Simons, Johanna Schmidt, William B. Rizzo, Marc C. Patterson, Ryan J. Taft, Adeline Vanderver
প্রকাশিত 2014Revisão -
9
Development of an Objective Autism Risk Index Using Remote Eye Tracking অনুযায়ী Thomas Frazier, Eric W. Klingemier, Mary Beukemann, Leslie Speer, Leslie Markowitz, Sumit Parikh, Steven Wexberg, Kimberly Giuliano, Elaine E. Schulte, Carol Delahunty, Veena Ahuja, Charis Eng, Michael J. Manos, Antonio Y. Hardan, Eric A. Youngstrom, Mark Strauss
প্রকাশিত 2016Artigo -
10
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development অনুযায়ী Scott Demarest, Heather E. Olson, Angela Moss, Elia M. Pestana-Knight, Xiaoming Zhang, Sumit Parikh, Lindsay C. Swanson, Katherine D. Riley, Grace A. Bazin, Katie Angione, Lisa‐Marie Niestroj, Dennis Lal, Elizabeth Juarez‐Colunga, Tim A. Benke
প্রকাশিত 2019Artigo -
11
Early-onset phenotype of bi-allelic <i>GRN</i> mutations অনুযায়ী Caroline Neuray, Tipu Sultan, Javeira Raza Alvi, Marcondes C. França, Birgit Assmann, Matias Wagner, Laura Canafoglia, Silvana Franceschetti, Giacomina Rossi, Isabel Santana, Carmo Macário, Maria Rosário Almeida, Mahesh Kamate, Sumit Parikh, Houda Zghal Elloumi, David Murphy, Stéphanie Efthymiou, Reza Maroofian, Henry Houlden
প্রকাশিত 2020Carta -
12
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation অনুযায়ী Vincenzo A. Gennarino, Callison E Alcott, Chun‐An Chen, Arindam Chaudhury, Madelyn A. Gillentine, Jill A. Rosenfeld, Sumit Parikh, James W. Wheless, Elizabeth Roeder, Dafne D. G. Horovitz, Erin K. Roney, Janice Smith, Sau Wai Cheung, Wei Li, Joel R. Neilson, Christian P. Schaaf, Huda Y. Zoghbi
প্রকাশিত 2015Artigo -
13
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society অনুযায়ী Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Bruce H. Cohen, Marni J. Falk, Carol L. Greene, Andrea Gropman, Richard Haas, Michio Hirano, Philip G. Morgan, Katherine B. Sims, Mark A. Tarnopolsky, Johan L.K. Van Hove, Lynne A. Wolfe, Salvatore DiMauro
প্রকাশিত 2014Revisão -
14
Severity Assessment in CDKL5 Deficiency Disorder অনুযায়ী Scott Demarest, Elia M. Pestana-Knight, Heather E. Olson, Jenny Downs, Eric D. Marsh, Walter E. Kaufmann, Carol‐Anne Partridge, Helen Leonard, Femida Gwadry‐Sridhar, Katheryn Elibri Frame, J. Helen Cross, Richard Chin, Sumit Parikh, Axel Panzer, Judith Weisenberg, Karen Utley, Amanda Jaksha, Sam Amin, Omar Khwaja, Orrin Devinsky, Jeffrey L. Neul, Alan K. Percy, Tim A. Benke
প্রকাশিত 2019Revisão -
15
Diagnosis of ‘possible’ mitochondrial disease: an existential crisis অনুযায়ী Sumit Parikh, Amel Karaa, Amy Goldstein, Enrico Bertini, Patrick F. Chinnery, John Christodoulou, Bruce H. Cohen, Ryan L. Davis, Marni J. Falk, Carl Fratter, Rita Horváth, Mary Kay Koenig, M. Mancuso, Shana E. McCormack, Elizabeth M. McCormick, Robert McFarland, Victoria Nesbitt, Manuel Schiff, Hannah E. Steele, Silvia Stockler, Carolyn M. Sue, Mark A. Tarnopolsky, David R. Thorburn, Jerry Vockley, Shamima Rahman
প্রকাশিত 2019Revisão -
16
Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells অনুযায়ী Caleb A. Lareau, Sonia M. Dubois, Frank A. Buquicchio, Yu-Hsin Hsieh, Kopal Garg, Pauline Kautz, Lena Nitsch, Samantha D. Praktiknjo, Patrick Maschmeyer, Jeffrey M. Verboon, Jacob C. Gutierrez, Yajie Yin, Evgenij Fiškin, Wendy Luo, Eleni P. Mimitou, Christoph Muus, Rhea Malhotra, Sumit Parikh, Mark D. Fleming, Lena Oevermann, Johannes H. Schulte, Cornelia Eckert, Anshul Kundaje, Peter Smibert, Santosha A. Vardhana, Ansuman T. Satpathy, Aviv Regev, Vijay G. Sankaran, Suneet Agarwal, Leif S. Ludwig
প্রকাশিত 2023Artigo -
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Nutritional interventions in primary mitochondrial disorders: Developing an evidence base অনুযায়ী Kathryn Camp, Danuta Krotoski, Melissa A. Parisi, Katrina Gwinn, Bruce H. Cohen, Christine Cox, Gregory M. Enns, Marni J. Falk, Amy Goldstein, Rashmi Gopal-Srivastava, Gráinne S. Gorman, Stephen P. Hersh, Michio Hirano, Freddie Ann Hoffman, Amel Karaa, Erin MacLeod, Robert McFarland, Charles Mohan, Andrew E. Mulberg, Joanne Odenkirchen, Sumit Parikh, Patricia J. Rutherford, Shawne K. Suggs-Anderson, W.H. Wilson Tang, Jerry Vockley, Lynne A. Wolfe, Steven Yannicelli, Philip E. Yeske, Paul M. Coates
প্রকাশিত 2016Revisão -
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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society অনুযায়ী Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel‐Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, Marni J. Falk, Annette Feigenbaum, Richard E. Frye, Jaya Ganesh, David A. Griesemer, Richard Haas, Rita Horváth, Mark Korson, Michael C. Kruer, Michelangelo Mancuso, Shana E. McCormack, Marie Josée Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P. Saneto, Fernando Scaglia, John M. Shoffner, Peter W. Stacpoole, Carolyn M. Sue, Mark A. Tarnopolsky, Clara van Karnebeek, Lynne A. Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman, Patrick F. Chinnery
প্রকাশিত 2017Revisão -
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Mitochondrial diseases in North America অনুযায়ী Emanuele Barca, Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro, Bruce H. Cohen, Amel Karaa, Georgirene D. Vladutiu, Richard Haas, Johan L.K. Van Hove, Fernando Scaglia, Sumit Parikh, Jirair K. Bedoyan, Susanne D. DeBrosse, Ralitza H. Gavrilova, Russell P. Saneto, Gregory M. Enns, Peter W. Stacpoole, Jaya Ganesh, Austin Larson, Zarazuela Zolkipli‐Cunningham, Marni J. Falk, Amy Goldstein, Mark A. Tarnopolsky, Andrea Gropman, Kathryn Camp, Danuta Krotoski, Kristin Engelstad, Xiomara Q. Rosales, Joshua Kriger, Johnston Grier, Richard Buchsbaum, John L.P. Thompson, Michio Hirano
প্রকাশিত 2020Artigo -
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Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies অনুযায়ী Laura Adang, Omar Sherbini, Laura J. Ball, Miriam Bloom, Anil Darbari, Hernán Amartino, Donna DiVito, Florian Eichler, Maria L. Escolar, Sarah Helen Evans, Ali Fatemi, Jamie L. Fraser, Leslie Hollowell, Nicole Jaffe, Christopher Joseph, Mary Karpinski, Stephanie Keller, Ryan M. Maddock, Edna E. Mancilla, Bruce McClary, Jana Mertz, Kiley Morgart, Thomas J. Langan, Richard J. Leventer, Sumit Parikh, Amy Pizzino, Erin Prange, Deborah L. Renaud, William B. Rizzo, Jay R. Shapiro, Dean Suhr, Teryn Suhr, Davide Tonduti, Jacque Waggoner, Amy Waldman, Nicole I. Wolf, Ayelet Zerem, Joshua L. Bonkowsky, Geneviève Bernard, Keith Van Haren, Adeline Vanderver
প্রকাশিত 2017Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Medicine
Biology
Gene
Genetics
Internal medicine
Pathology
Disease
Mitochondrial DNA
Psychiatry
Intensive care medicine
Mitochondrial disease
Phenotype
Alternative medicine
Bioinformatics
Pediatrics
Psychology
Artificial intelligence
Computer science
Genome
Nursing
Autism
Epilepsy
Family medicine
Gene duplication
Quality of life (healthcare)
Biochemistry
Chemistry
Clinical trial
Coenzyme Q10
Computational biology