Hasil Pencarian - Shimul Chowdhury

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  1. 1
    Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype

    Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype oleh Ana Maria Rodriguez, Katherine Schain, Parul Jayakar, Meredith S. Wright, Shimul Chowdhury, Daria Salyakina

    Diterbitkan 2023-08-01
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  2. 2
    Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy

    Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy oleh Sejal Kadakia, Lauge Farnaes, David Dimmock, Shimul Chowdhury, Yan Ding, Eric J. Anderson, Stephen Kingsmore, Ron S. Newfield

    Diterbitkan 2019-11-01
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  3. 3
    Maternal genome-wide DNA methylation patterns and congenital heart defects.

    Maternal genome-wide DNA methylation patterns and congenital heart defects. oleh Shimul Chowdhury, Stephen W Erickson, Stewart L MacLeod, Mario A Cleves, Ping Hu, Mohammad A Karim, Charlotte A Hobbs

    Diterbitkan 2011-01-01
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  4. 4
    Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation

    Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation oleh Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose Gelineau-Morel, Shimul Chowdhury, on behalf of Rady Children’s Institute for Genomic Medicine Investigators, Jennifer Friedman

    Diterbitkan 2020-06-01
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  5. 5
    Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome

    Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome oleh Jennifer Friedman, Lynne M. Bird, Richard Haas, Shira L. Robbins, Shareef A. Nahas, David P. Dimmock, Matthew J. Yousefzadeh, Mariah A. Witt, Laura J. Niedernhofer, Shimul Chowdhury

    Diterbitkan 2021-07-01
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  6. 6
    Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

    Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease oleh Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Sergey Batalov, Michelle Clark, Sara Caylor, Julie Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David Dimmock, Stephen F. Kingsmore

    Diterbitkan 2021-05-01
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  7. 7
    Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

    Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease oleh Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Sergey Batalov, Michelle Clark, Sara Caylor, Julie Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David Dimmock, Stephen F. Kingsmore

    Diterbitkan 2021-05-01
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  8. 8
    Best practices for the interpretation and reporting of clinical whole genome sequencing

    Best practices for the interpretation and reporting of clinical whole genome sequencing oleh Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, Medical Genome Initiative*

    Diterbitkan 2022-04-01
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  9. 9
    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy oleh Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson

    Diterbitkan 2019-02-01
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  10. 10
    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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  11. 11
    Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit

    Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit oleh Erica Sanford Kobayashi, Erica Sanford Kobayashi, Bryce Waldman, Branden M. Engorn, Katherine Perofsky, Katherine Perofsky, Erika Allred, Erika Allred, Benjamin Briggs, Chelsea Gatcliffe, Nanda Ramchandar, Nanda Ramchandar, Jeffrey J. Gold, Jeffrey J. Gold, Ami Doshi, Ami Doshi, Elizabeth G. Ingulli, Courtney D. Thornburg, Courtney D. Thornburg, Wendy Benson, Lauge Farnaes, Shimul Chowdhury, Seema Rego, Charlotte Hobbs, Stephen F. Kingsmore, David P. Dimmock, Nicole G. Coufal, Nicole G. Coufal, Nicole G. Coufal

    Diterbitkan 2022-01-01
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  12. 12
    An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

    An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases oleh Mallory J. Owen, Sebastien Lefebvre, Christian Hansen, Chris M. Kunard, David P. Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary J. Willis, Annette Feigenbaum, Anna-Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal S. Mehtalia, Kevin K. Chau, Yong H. Kwon, Zhanyang Zhu, Sergey Batalov, Shimul Chowdhury, Seema Rego, James Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, Gail Knight, Albert Oriol, Jerica Lenberg, Shareef A. Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford, Kristen Wigby, Jacqueline Weir, Vicki S. Thomson, Louise Fraser, Seka S. Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore

    Diterbitkan 2022-07-01
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