Resultats de la cerca - Joseph T.C. Shieh

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  1. 1
    Consanguinity and the risk of congenital heart disease

    Consanguinity and the risk of congenital heart disease per Joseph T.C. Shieh, A.H. Bittles, Louanne Hudgins

    Publicat 2012
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  2. 2
    Elevated miR-499 Levels Blunt the Cardiac Stress Response

    Elevated miR-499 Levels Blunt the Cardiac Stress Response per Joseph T.C. Shieh, Yu Huang, Jacqueline Gilmore, Deepak Srivastava

    Publicat 2011
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  3. 3
    Genetics workforce: distribution of genetics services and challenges to health care in California

    Genetics workforce: distribution of genetics services and challenges to health care in California per Monica Penon‐Portmann, Jiyoo Chang, Mira Cheng, Joseph T.C. Shieh

    Publicat 2019
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  4. 4
    Chemokine Receptor Utilization by Human Immunodeficiency Virus Type 1 Isolates That Replicate in Microglia

    Chemokine Receptor Utilization by Human Immunodeficiency Virus Type 1 Isolates That Replicate in Microglia per Joseph T.C. Shieh, Andrew Albright, Matthew Sharron, Suzanne Gartner, Julie Strizki, Robert W. Doms, Francisco González‐Scarano

    Publicat 1998
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  5. 5
    The coxsackievirus and adenovirus receptor is a transmembrane component of the tight junction

    The coxsackievirus and adenovirus receptor is a transmembrane component of the tight junction per Christopher J. Cohen, Joseph T.C. Shieh, Raymond J. Pickles, Takatsugu Okegawa, Jer‐Tsong Hsieh, Jeffrey M. Bergelson

    Publicat 2001
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  6. 6
    Microglia Express CCR5, CXCR4, and CCR3, but of These, CCR5 Is the Principal Coreceptor for Human Immunodeficiency Virus Type 1 Dementia Isolates

    Microglia Express CCR5, CXCR4, and CCR3, but of These, CCR5 Is the Principal Coreceptor for Human Immunodeficiency Virus Type 1 Dementia Isolates per Andrew Albright, Joseph T.C. Shieh, Takayuki Itoh, Benhur Lee, David Pleasure, Michael J. O’Connor, Robert W. Doms, Francisco González‐Scarano

    Publicat 1999
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  7. 7
    GBM heterogeneity as a function of variable epidermal growth factor receptor variant III activity

    GBM heterogeneity as a function of variable epidermal growth factor receptor variant III activity per Olle R. Lindberg, Andrew McKinney, Jane R. Engler, Gayane Koshkakaryan, Henry Gong, Aaron E. Robinson, Andrew J. Ewald, Emmanuelle Huillard, C. David James, Annette M. Molinaro, Joseph T.C. Shieh, Joanna J. Phillips

    Publicat 2016
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  8. 8
    Clinical features and management issues in Mowat–Wilson syndrome

    Clinical features and management issues in Mowat–Wilson syndrome per Margaret P Adam, Susan Schelley, Renata C. Gallagher, April N. Brady, Kimberly Barr, Bruce Blumberg, Joseph T.C. Shieh, John M. Graham, Anne Slavotinek, Madelena Martin, Kim M. Keppler‐Noreuil, Andrea L. Storm, Louanne Hudgins

    Publicat 2006
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  9. 9
    Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation

    Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation per Xiaoyan Ge, Henry Gong, Kevin Dumas, Jessica Litwin, Joanna J. Phillips, Quinten Waisfisz, Marjan M. Weiss, Yvonne Hendriks, Kyra E. Stuurman, Stanley F. Nelson, Wayne W. Grody, Hane Lee, Pui‐Yan Kwok, Joseph T.C. Shieh

    Publicat 2016
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  10. 10
    CXCL14 Promotes a Robust Brain Tumor-Associated Immune Response in Glioma

    CXCL14 Promotes a Robust Brain Tumor-Associated Immune Response in Glioma per Anupam Kumar, Esraa Mohamed, Schuyler Tong, Katharine Chen, Joydeep Mukherjee, Yunita Lim, Cynthia Wong, Zoe Boosalis, Anny Shai, Russell O. Pieper, Nalin Gupta, Arie Perry, Andrew W. Bollen, Annette M. Molinaro, David A. Solomon, Joseph T.C. Shieh, Joanna J. Phillips

    Publicat 2022
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  11. 11
    The genetic landscape of anaplastic pleomorphic xanthoastrocytoma

    The genetic landscape of anaplastic pleomorphic xanthoastrocytoma per Joanna J. Phillips, Henry Gong, Katharine Chen, Nancy M. Joseph, Jessica Van Ziffle, Boris C. Bastian, James P. Grenert, Cassie Kline, Sabine Mueller, Anuradha Banerjee, Theodore Nicolaides, Nalin Gupta, Mitchel S. Berger, Han S. Lee, Melike Pekmezci, Tarık Tihan, Andrew W. Bollen, Arie Perry, Joseph T.C. Shieh, David A. Solomon

    Publicat 2018
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  12. 12
    Application of full-genome analysis to diagnose rare monogenic disorders

    Application of full-genome analysis to diagnose rare monogenic disorders per Joseph T.C. Shieh, Monica Penon‐Portmann, K. Wong, Michal Levy‐Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David I. K. Martin, Pui‐Yan Kwok, Dario Boffelli

    Publicat 2021
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  13. 13
    Congenital Cardiac, Aortic Arch, and Vascular Bed Anomalies in PHACE Syndrome (from the International PHACE Syndrome Registry)

    Congenital Cardiac, Aortic Arch, and Vascular Bed Anomalies in PHACE Syndrome (from the International PHACE Syndrome Registry) per Michelle L. Bayer, Peter C. Frommelt, Francine Blei, Johannes M. P. J. Breur, Maria Cordisco, Ilona J. Frieden, Deborah S. Goddard, Kristen E. Holland, Alfons L. Krol, Mohit Maheshwari, Denise W. Metry, Kimberly D. Morel, Paula E. North, Elena Pope, Joseph T.C. Shieh, James F. Southern, Orli Wargon, Dawn H. Siegel, Beth A. Drolet

    Publicat 2013
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  14. 14
    Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

    Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase per David Dimmock, Q. Zhang, Carlo Dionisi‐Vici, Rosalba Carrozzo, Joseph T.C. Shieh, L-Y Tang, Cavatina K. Truong, Eric Schmitt, Mara Sifry-Platt, S. Lucioli, Filippo M. Santorelli, Can Fıçıcıoğlu, Maria Angeles Rodríguez, Klaas J. Wierenga, Gregory M. Enns, Nicola Longo, Mark Lipson, Hilary Vallance, W. J. Craigen, Fernando Scaglia, L-J. C. Wong

    Publicat 2008
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  15. 15
    Phenotype characterisation of <i>TBX4</i> mutation and deletion carriers with neonatal and paediatric pulmonary hypertension

    Phenotype characterisation of <i>TBX4</i> mutation and deletion carriers with neonatal and paediatric pulmonary hypertension per Csaba Galambos, Mary P. Mullen, Joseph T.C. Shieh, Nicolaus Schwerk, Matthew J. Kielt, Nicola Ullmann, Renata Boldrini, Irena Stucin-Gantar, Cristina Haass, Manish Bansal, Pankaj B. Agrawal, Joyce Johnson, Donatella Peca, Cecilia Surace, Renato Cutrera, Michael W. Pauciulo, William C. Nichols, Matthias Griese, D. Dunbar Ivy, Steven H. Abman, Eric D. Austin, Olivier Danhaive

    Publicat 2019
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  16. 16
    Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

    Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients per Robert L. Conway, Barry D. Pressman, William B. Dobyns, Moise Danielpour, John Lee, Pedro A. Sanchez‐Lara, Merlin G. Butler, Elaine H. Zackai, Lindsey Campbell, Sulagna C. Saitta, Carol L. Clericuzio, Jeff M. Milunsky, H. Eugene Hoyme, Joseph T.C. Shieh, John B. Moeschler, Barbara F. Crandall, Julie Lauzon, David Viskochil, Brian Harding, John M. Graham

    Publicat 2007
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  17. 17
    The role of exome sequencing in newborn screening for inborn errors of metabolism

    The role of exome sequencing in newborn screening for inborn errors of metabolism per Aashish N. Adhikari, Renata C. Gallagher, Yaqiong Wang, Robert J. Currier, George S. Amatuni, Laia Bassaganyas, Flavia Chen, Kunal Kundu, Mark Kvale, Sean D. Mooney, Robert L. Nussbaum, Savanna S. Randi, Jeremy R. Sanford, Joseph T.C. Shieh, Rajgopal Srinivasan, Uma Sunderam, Hao Tang, Dedeepya Vaka, Yangyun Zou, Barbara A. Koenig, Pui‐Yan Kwok, Neil Risch, Jennifer M. Puck, Steven E. Brenner

    Publicat 2020
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  18. 18
    De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

    De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de... per Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T. Cho, Kristin G. Monaghan, Dina Schneidman‐Duhovny, Sarah Parisotto, Johanna C. Herkert, Alexander P.A. Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne D. DeBrosse, Justin O. Szot, Gavin Chapman, Nicholas Pachter, David S. Winlaw, Bryce A. Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter Karachunski, Jane M. Lewis, Hélio Pedro, Sally L. Dunwoodie, Licia Selleri, Joseph T.C. Shieh

    Publicat 2017
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  19. 19
    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome per Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C. Herkert, Elysa J. Marco, Marjolein H. Willemsen, Tjitske Kleefstra, Mark C. Hannibal, Joseph T.C. Shieh, Sally Ann Lynch, Frances Flinter, David Fitzpatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury‐Ecob, Raphael Bernier, Malin Kvarnung, Elin Magnusson, Marja W. Wessels, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Petra de Vries, Joris A. Veltman, Christopher J. Lord, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    Publicat 2017
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  20. 20
    Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

    Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition per Sarah E. Sheppard, Michael March, Christoph Seiler, Leticia S. Matsuoka, S Kim, Charlly Kao, Adam I. Rubin, Mark R. Battig, Nahla Khalek, Erica Schindewolf, Nora O’Connor, Erin Pinto, Jessica Priestley, Victoria R. Sanders, Rojeen Niazi, Arupa Ganguly, Cuiping Hou, Diana J. Slater, Ilona J. Frieden, Thy Huynh, Joseph T.C. Shieh, Ian D. Krantz, Jessenia Guerrero, Lea F. Surrey, David M. Biko, Pablo Laje, Leslie Castelo‐Soccio, Taizo A. Nakano, Kristen Snyder, Christopher L. Smith, Dong Li, Yoav Dori, Hákon Hákonarson

    Publicat 2023
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