Hasil Pencarian - Marcus Naymik

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  1. 1
    Adenosine triphosphate binding cassette subfamily C member 1 (ABCC1) overexpression reduces APP processing and increases alpha- versus beta-secretase activity, in vitro

    Adenosine triphosphate binding cassette subfamily C member 1 (ABCC1) overexpression reduces APP processing and increases alpha- versus beta-secretase activity, in vitro oleh Wayne M. Jepsen, Matthew De Both, Ashley L. Siniard, Keri Ramsey, Ignazio S. Piras, Marcus Naymik, Adrienne Henderson, Matthew J. Huentelman

    Diterbitkan 2021-01-01
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  2. 2
    Leukocyte and cytokine variables in asymptomatic Pugs at genetic risk of necrotizing meningoencephalitis

    Leukocyte and cytokine variables in asymptomatic Pugs at genetic risk of necrotizing meningoencephalitis oleh Rebecca Windsor, Samuel D. Stewart, Joshua Talboom, Candace Lewis, Marcus Naymik, Ignazio S. Piras, Stefan Keller, Dori L. Borjesson, Gary Clark, Chand Khanna, Matthew Huentelman

    Diterbitkan 2021-11-01
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  3. 3
    A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss

    A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss oleh Elina Kari, Lorida Llaci, John L. Go, Marcus Naymik, James A. Knowles, Suzanne M. Leal, Sampath Rangasamy, Matthew J. Huentelman, Rick A. Friedman, Isabelle Schrauwen

    Diterbitkan 2019-12-01
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  4. 4
    Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations

    Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations oleh Keri Ramsey, Newell Belnap, Anna Bonfitto, Wayne Jepsen, Marcus Naymik, Meredith Sanchez‐Castillo, David W. Craig, Szabolcs Szelinger, Matthew J. Huentelman, Vinodh Narayanan, Sampath Rangasamy

    Diterbitkan 2022-02-01
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  5. 5
    DNA Methylation and Expression Profiles of Whole Blood in Parkinson’s Disease

    DNA Methylation and Expression Profiles of Whole Blood in Parkinson’s Disease oleh Adrienne R. Henderson, Qi Wang, Bessie Meechoovet, Ashley L. Siniard, Marcus Naymik, Matthew De Both, Matthew J. Huentelman, Richard J. Caselli, Erika Driver-Dunckley, Travis Dunckley

    Diterbitkan 2021-04-01
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  6. 6
    Family SES Is Associated with the Gut Microbiome in Infants and Children

    Family SES Is Associated with the Gut Microbiome in Infants and Children oleh Candace R. Lewis, Kevin S. Bonham, Shelley Hoeft McCann, Alexandra R. Volpe, Viren D’Sa, Marcus Naymik, Matt D. De Both, Matthew J. Huentelman, Kathryn Lemery-Chalfant, Sarah K. Highlander, Sean C. L. Deoni, Vanja Klepac-Ceraj

    Diterbitkan 2021-07-01
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  7. 7
    Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability [version 1; referees: 2 approved]

    Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilit... oleh Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M. Claasen, Sampathkumar Rangasamy, Matthew J. Huentelman, David W. Craig, Philippe M. Campeau, Vinodh Narayanan, Isabelle Schrauwen

    Diterbitkan 2017-04-01
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  8. 8
    Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

    Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders oleh Eric Frankel, Avijit Podder, Megan Sharifi, Roshan Pillai, Newell Belnap, Keri Ramsey, Julius Dodson, Pooja Venugopal, Molly Brzezinski, Lorida Llaci, Brittany Gerald, Gabrielle Mills, Meredith Sanchez-Castillo, Chris D. Balak, Szabolcs Szelinger, Wayne M. Jepsen, Ashley L. Siniard, Ryan Richholt, Marcus Naymik, Isabelle Schrauwen, David W. Craig, Ignazio S. Piras, Matthew J. Huentelman, Nicholas J. Schork, Vinodh Narayanan, Sampathkumar Rangasamy

    Diterbitkan 2023-05-01
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  9. 9
    Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

    Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases oleh Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, Erwin Frise, Jeanette McCarthy, Edgar Javier Hernandez, Terence Wong, Kiely James, Lucia Guidugli, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Alan H. Beggs, Britt-Sabina Löscher, Andre Franke, Braden Boone, Shawn E. Levy, Katrin Õunap, Sander Pajusalu, Matt Huentelman, Keri Ramsey, Marcus Naymik, Vinodh Narayanan, Narayanan Veeraraghavan, Paul Billings, Martin G. Reese, Mark Yandell, Stephen F. Kingsmore

    Diterbitkan 2021-10-01
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  10. 10
    Parent-reported child appetite moderates relationships between child genetic obesity risk and parental feeding practices

    Parent-reported child appetite moderates relationships between child genetic obesity risk and parental feeding practices oleh Elena Jansen, Marcus Naymik, Gita Thapaliya, Matt Huentelman, Jennifer Beauchemin, Viren D'Sa, Candace R. Lewis, Candace R. Lewis, Sean Deoni, Sean Deoni, Sean Deoni, RESONANCE consortium, Susan Carnell, Sean C. L. Deoni, Viren D'Sa, Daphne Koinis-Mitchell, Muriel Bruchhage, Alexandra Volpe, Jennifer Beauchemin, Caroline Wallace, John Rogers, Rosa Cano, Warren Alpert, Jessica Fernandes, Elizabeth Walsh, Brittany Rhodes, Matthew Huentelman, Candace Lewis, Matthew D. De Both, Marcus A. Naymik, Susan Carnell, Elena Jansen, Jennifer R. Sadler, Gita Thapaliya, Vanja Klepac-Ceraj, Kevin Bonham, Monique LeBourgeois, Hans Georg Mueller, Jane-Ling Wang, Changbo Zhu, Yaqing Chen, Joseph Braun

    Diterbitkan 2023-05-01
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