Arama Sonuçları - Joseph T.C. Shieh
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1
Consanguinity and the risk of congenital heart disease Yazar: Joseph T.C. Shieh, A.H. Bittles, Louanne Hudgins
Baskı/Yayın Bilgisi 2012Revisão -
2
Elevated miR-499 Levels Blunt the Cardiac Stress Response Yazar: Joseph T.C. Shieh, Yu Huang, Jacqueline Gilmore, Deepak Srivastava
Baskı/Yayın Bilgisi 2011Artigo -
3
Genetics workforce: distribution of genetics services and challenges to health care in California Yazar: Monica Penon‐Portmann, Jiyoo Chang, Mira Cheng, Joseph T.C. Shieh
Baskı/Yayın Bilgisi 2019Artigo -
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Microglia Express CCR5, CXCR4, and CCR3, but of These, CCR5 Is the Principal Coreceptor for Human Immunodeficiency Virus Type 1 Dementia Isolates Yazar: Andrew Albright, Joseph T.C. Shieh, Takayuki Itoh, Benhur Lee, David Pleasure, Michael J. O’Connor, Robert W. Doms, Francisco González‐Scarano
Baskı/Yayın Bilgisi 1999Artigo -
7
GBM heterogeneity as a function of variable epidermal growth factor receptor variant III activity Yazar: 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
Baskı/Yayın Bilgisi 2016Artigo -
8
Clinical features and management issues in Mowat–Wilson syndrome Yazar: 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
Baskı/Yayın Bilgisi 2006Artigo -
9
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation Yazar: 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
Baskı/Yayın Bilgisi 2016Artigo -
10
CXCL14 Promotes a Robust Brain Tumor-Associated Immune Response in Glioma Yazar: 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
Baskı/Yayın Bilgisi 2022Artigo -
11
The genetic landscape of anaplastic pleomorphic xanthoastrocytoma Yazar: 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
Baskı/Yayın Bilgisi 2018Artigo -
12
Application of full-genome analysis to diagnose rare monogenic disorders Yazar: 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
Baskı/Yayın Bilgisi 2021Artigo -
13
Congenital Cardiac, Aortic Arch, and Vascular Bed Anomalies in PHACE Syndrome (from the International PHACE Syndrome Registry) Yazar: 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
Baskı/Yayın Bilgisi 2013Artigo -
14
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase Yazar: 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
Baskı/Yayın Bilgisi 2008Artigo -
15
Phenotype characterisation of <i>TBX4</i> mutation and deletion carriers with neonatal and paediatric pulmonary hypertension Yazar: 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
Baskı/Yayın Bilgisi 2019Artigo -
16
Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients Yazar: 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
Baskı/Yayın Bilgisi 2007Artigo -
17
The role of exome sequencing in newborn screening for inborn errors of metabolism Yazar: 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
Baskı/Yayın Bilgisi 2020Artigo -
18
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de... Yazar: 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
Baskı/Yayın Bilgisi 2017Artigo -
19
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome Yazar: 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
Baskı/Yayın Bilgisi 2017Artigo -
20
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition Yazar: 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
Baskı/Yayın Bilgisi 2023Artigo
Arama Araçları:
İlgili Konular
Biology
Genetics
Gene
Medicine
Mutation
Internal medicine
Pediatrics
Phenotype
Exome sequencing
Cancer research
Computational biology
Exome
Genome
Immunology
Neuroscience
Pathology
Receptor
Cell
Cell biology
Chemokine
Chemokine receptor
Computer science
Psychiatry
Virology
Anatomy
Biochemistry
Bioinformatics
CXCR4
Cancer
Cardiology