Hasil Pencarian - Vinodh Narayanan

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  1. 1
    Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model [version 1; referees: 2 approved]

    Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model [version 1; referees: 2 approved] oleh Sampathkumar Rangasamy, Shannon Olfers, Brittany Gerald, Alex Hilbert, Sean Svejda, Vinodh Narayanan

    Diterbitkan 2016-09-01
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  2. 2
    Nuclease-free precise genome editing corrects MECP2 mutations associated with Rett syndrome

    Nuclease-free precise genome editing corrects MECP2 mutations associated with Rett syndrome oleh Swati Bijlani, Ka Ming Pang, Lakshmi V. Bugga, Sampath Rangasamy, Vinodh Narayanan, Saswati Chatterjee

    Diterbitkan 2024-03-01
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  3. 3
    Family and caregiver perspectives on gene therapy for Rett syndrome

    Family and caregiver perspectives on gene therapy for Rett syndrome oleh Keri Ramsey, Madison LaFleur, Kiana Robinson, Mark Borgstrom, Ashley Ryan, Vinodh Narayanan, Valerie Schaibley

    Diterbitkan 2024-01-01
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  4. 4
    <i>GABRG2</i> Variants Associated with Febrile Seizures

    <i>GABRG2</i> Variants Associated with Febrile Seizures oleh Ciria C. Hernandez, Yanwen Shen, Ningning Hu, Wangzhen Shen, Vinodh Narayanan, Keri Ramsey, Wen He, Liping Zou, Robert L. Macdonald

    Diterbitkan 2023-02-01
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  5. 5
    Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities [version 1; referees: 2 approved]

    Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities [version 1... oleh Mohan Narayanan, Keri Ramsey, Theresa Grebe, Isabelle Schrauwen, Szabolcs Szelinger, Matthew Huentelman, David Craig, Vinodh Narayanan, C4RCD Research Group

    Diterbitkan 2015-09-01
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  6. 6
    Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex

    Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex oleh Jinhong Wie, Apoorva Bharthur, Morgan Wolfgang, Vinodh Narayanan, Keri Ramsey, C4RCD Research Group, Kimberly Aranda, Qi Zhang, Yandong Zhou, Dejian Ren

    Diterbitkan 2020-07-01
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  7. 7
    Gene Expression Profiling in Postmortem Rett Syndrome Brain: Differential Gene Expression and Patient Classification

    Gene Expression Profiling in Postmortem Rett Syndrome Brain: Differential Gene Expression and Patient Classification oleh Carlo Colantuoni, Ok-Hee Jeon, Karim Hyder, Alex Chenchik, Anis H. Khimani, Vinodh Narayanan, Eric P. Hoffman, Walter E. Kaufmann, SakkuBai Naidu, Jonathan Pevsner

    Diterbitkan 2001-10-01
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  8. 8
    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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  9. 9
    Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing.

    Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing. oleh Szabolcs Szelinger, Ivana Malenica, Jason J Corneveaux, Ashley L Siniard, Ahmet A Kurdoglu, Keri M Ramsey, Isabelle Schrauwen, Jeffrey M Trent, Vinodh Narayanan, Matthew J Huentelman, David W Craig

    Diterbitkan 2014-01-01
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  10. 10
    Simultaneous recordings of ocular microtremor and microsaccades with a piezoelectric sensor and a video-oculography system

    Simultaneous recordings of ocular microtremor and microsaccades with a piezoelectric sensor and a video-oculography system oleh Michael B. McCamy, Niamh Collins, Jorge Otero-Millan, Mohammed Al-Kalbani, Stephen L. Macknik, Davis Coakley, Xoana G. Troncoso, Gerard Boyle, Vinodh Narayanan, Thomas R. Wolf, Susana Martinez-Conde

    Diterbitkan 2013-02-01
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  11. 11
    A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.

    A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome. oleh Isabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, Ahmet Kurdoglu, Jason J Corneveaux, Ivana Malenica, Ryan Richholt, Guy Van Camp, Matt De Both, Shanker Swaminathan, Mari Turk, Keri Ramsey, David W Craig, Vinodh Narayanan, Matthew J Huentelman

    Diterbitkan 2015-01-01
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  12. 12
    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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  13. 13
    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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  14. 14
    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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  15. 15
    Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

    Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders oleh Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens

    Diterbitkan 2023-01-01
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  16. 16
    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations oleh Elizabeth A. Werren, Emily R. Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, K. L. I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun A. Rappold, Rachel Rabin, John G. Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie L. Bielas

    Diterbitkan 2024-05-01
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  17. 17
    Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

    Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood oleh Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Siddharth Banka, Bekim Sadikovic, Jill A. Fahrner

    Diterbitkan 2021-11-01
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  18. 18
    Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

    Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood oleh Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Sidharth Banka, Bekim Sadikovic, Jill A. Fahrner

    Diterbitkan 2021-11-01
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  19. 19
    Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

    Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish oleh Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R. Lupski, Reka Kovacs-Nagy, Patrick May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey, Sampathkumar Rangasamy, Deepali N. Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Ingo Helbig, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, Peter De Jonghe

    Diterbitkan 2019-02-01
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  20. 20
    Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

    Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome oleh Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee

    Diterbitkan 2022-06-01
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