Hasil Pencarian - Sumit Parikh

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  1. 1
    Navigating Life With Primary Mitochondrial Myopathies: The Importance of the Patient Voice and Implications for Clinical Practice

    Navigating Life With Primary Mitochondrial Myopathies: The Importance of the Patient Voice and Implications for Clinical Practice oleh Margaret Moore, Philip Yeske, Sumit Parikh

    Diterbitkan 2023-08-01
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  2. 2
    Understanding the impact of pediatric single large‐scale mtDNA deletion syndromes on caregivers: Burdens and challenges

    Understanding the impact of pediatric single large‐scale mtDNA deletion syndromes on caregivers: Burdens and challenges oleh McKenzie Chappell, Sumit Parikh, Elizabeth Reynolds

    Diterbitkan 2023-09-01
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  3. 3
    A physician targeted intervention improves prescribing in chronic heart failure in general medical units

    A physician targeted intervention improves prescribing in chronic heart failure in general medical units oleh Chong Chyn Chua, Anastasia Hutchinson, Mark Tacey, Sumit Parikh, Wen Kwang Lim, Craig Aboltins

    Diterbitkan 2018-03-01
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  4. 4
    Primary mitochondrial disease in the US: Data from patients and physicians' perspective on health care delivery

    Primary mitochondrial disease in the US: Data from patients and physicians' perspective on health care delivery oleh Amel Karaa, Amy Goldstein, Cristy Balcells, Kira Mann, Laura Stanley, Philip E. Yeske, Sumit Parikh

    Diterbitkan 2019-08-01
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  5. 5
    Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis

    Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis oleh Kellan P. Weston, Xiaoyi Gao, Jinghan Zhao, Kwang-Soo Kim, Susan E. Maloney, Jill Gotoff, Sumit Parikh, Yen-Chen Leu, Kuen-Phon Wu, Marwan Shinawi, Joshua P. Steimel, Joseph S. Harrison, Jason J. Yi

    Diterbitkan 2021-11-01
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  6. 6
    Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects

    Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and... oleh Jirair K. Bedoyan, Rosemary Hage, Ha Kyung Shin, Sharon Linard, Edwin Ferren, Nicole Ducich, Kirkland Wilson, April Lehman, Lori‐Anne Schillaci, Kandamurugu Manickam, Mari Mori, Dennis Bartholomew, Suzanne DeBrosse, Bruce Cohen, Sumit Parikh, Douglas Kerr

    Diterbitkan 2020-11-01
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  7. 7
    Exploring the neurological features of individuals with germline PTEN variants: A multicenter study

    Exploring the neurological features of individuals with germline PTEN variants: A multicenter study oleh Andrew Dhawan, Sarah Baitamouni, Darren Liu, Robyn Busch, Patricia Klaas, Thomas W. Frazier, Siddharth Srivastava, Sumit Parikh, Gary E. Hsich, Neil R. Friedman, David M. Ritter, Antonio Y. Hardan, Julian A. Martinez‐Agosto, Mustafa Sahin, Charis Eng

    Diterbitkan 2024-05-01
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  8. 8
    Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

    Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease oleh Amel Karaa, Laura E. MacMullen, John C. Campbell, John Christodoulou, Bruce H. Cohen, Thomas Klopstock, Yasutoshi Koga, Costanza Lamperti, Rob vanMaanen, Robert McFarland, Sumit Parikh, Shamima Rahman, Fernando Scaglia, Alexander V. Sherman, Philip Yeske, Marni J. Falk

    Diterbitkan 2022-03-01
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  9. 9
    Registry-derived stage (RD-Stage) for capturing stage at diagnosis for pancreatic carcinoma in Australia

    Registry-derived stage (RD-Stage) for capturing stage at diagnosis for pancreatic carcinoma in Australia oleh Sue M. Evans, Kris Ivanova, Danca Cossio, Charles H. C. Pilgrim, Daniel Croagh, John Zalcberg, Dalisay Giffard, Nikkitia Golobic, Bruno Di Muzio, Catriona McLean C, Kate McLean, Gregory C. Miller, Susanna Nicosia, Nick O’Rourke, Sumit Parikh, Richard Standish, Luc te Marvelde

    Diterbitkan 2024-01-01
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  10. 10
    NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

    NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation oleh Vincenzo A Gennarino, Callison E Alcott, Chun-An Chen, Arindam Chaudhury, Madelyn A Gillentine, Jill A Rosenfeld, Sumit Parikh, James W Wheless, Elizabeth R Roeder, Dafne DG Horovitz, Erin K Roney, Janice L Smith, Sau W Cheung, Wei Li, Joel R Neilson, Christian P Schaaf, Huda Y Zoghbi

    Diterbitkan 2015-08-01
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  11. 11
    Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease

    Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease oleh Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary‐Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza‐Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B. Tylleskär, Damien Brackman, Saskia B. Wortmann, Jenny C. Taylor, Laurence A. Bindoff, Vineta Fellman, Shamima Rahman

    Diterbitkan 2021-11-01
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