Zobrazeno 1 - 10
of 58
pro vyhledávání: '"John A. Pugh"'
Autor:
Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatel
Externí odkaz:
https://doaj.org/article/beed8cf5cfdc460cbcfd56990a49d6fd
Autor:
Lynn Pais, Anna Pelet, Wilhelmina S. Kerstjens-Frederikse, Christine Bole-Feysot, Yunia Sribudiani, Stanislas Lyonnet, Natasha Shur, Valérie Cormier-Daire, Louise Galmiche, Cécile Masson, Christopher T. Gordon, Chelsea Kois, Céline Huber, John A. Pugh, Simon Sadedin, Thuy-Linh Le, Nicolas Goudin, Tania Attié-Bitach, Susan M. White, Tiong Yang Tan, Geneviève Baujat, Valérie Serre, Xiaomin Dong, Mohammed Zarhrate, Patrick Nitschke, Jeanne Amiel, John Christodoulou, Frans W. Verheijen, Sophie Thomas, R Hofstra, Salima El Chehadeh, Valerie Mayne
Publikováno v:
American Journal of Human Genetics, 106(6), 779-792. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.779-792. ⟨10.1016/j.ajhg.2020.04.010⟩
Am J Hum Genet
American Journal of Human Genetics, 106(6), 779-792. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.779-792. ⟨10.1016/j.ajhg.2020.04.010⟩
Am J Hum Genet
American Journal of Human Genetics, 106(6), 779-792. Cell Press
The evolutionarily conserved hedgehog (Hh) pathway is essential for organogenesis and plays critical roles in postnatal tissue maintenance and renewal. A unique feature of the vertebrate Hh pathway is that signal transduction requires the primary cil
Autor:
Kathryn Elliott, Siddharth Srivastava, Meghan C. Towne, Hannah Medsker, Catherine Gooch, Robin D. Clark, John M. Graham, Chanika Phornphutkul, Jill A. Madden, Pankaj B. Agrawal, Maria F. Palafox, Deborah Krakow, Meghna Singh, Daniela N. Schweitzer, Ryan Gates, Ali Fatemi, Kimberly Nugent, Katheryn Grand, Samantha A. Schrier Vergano, Brianna K. Murray, Kate A. Tauber, Weiyi Mu, Erin Swartz, Timothy W. Yu, Julie S. Cohen, Kimberly Glaser, Svetlana Azova, Paul J. Benke, Mary Kathryn Chambers, Dana H. Goodloe, Christina Kresge, Valerie A. Arboleda, John A. Pugh, Kristin W. Barañano, Megan Yabumoto, S. Joy Dean, Beth A. Pletcher, Subhadra Ramanathan, Angela Wei, Jessica Kianmahd, Elizabeth Roeder, Natalia Gomez-Ospina, Jessica Smith, Cynthia S. Gubbels, Anne H. O’Donnell-Luria
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, vol 9, iss 10
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, vol 9, iss 10
The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatellar Syndr
Autor:
Ruth M. Tinnacher, Liange Zheng, Charuleka Varadharajan, Jens Birkholzer, Robert Trautz, Peter S. Nico, John D. Pugh, Marco Bianchi, Nicolas Spycher
Publikováno v:
Chemical Geology. 447:117-132
One of the risks that CO2 geological sequestration imposes on the environment is the impact of potential CO2/brine leakage on shallow groundwater. The reliability of reactive transport models predicting the response of groundwater to CO2 leakage depe
Publikováno v:
Pediatric neurology. 100
Publikováno v:
Bioinformatics. 31:753-760
Motivation: Advances in analytical instrumentation towards acquiring high-resolution images of mass spectrometry constantly demand efficient approaches for data analysis. This is particularly true of time-of-flight secondary ion mass spectrometry ima
Autor:
Brian W. Stewart, G. Perkins, Robert Trautz, Dennis L. Newell, John D. Pugh, Toti E. Larson, Rosemary C. Capo
Publikováno v:
International Journal of Greenhouse Gas Control. 29:200-208
During a carbon sequestration field study to simulate the impact of CO 2 migration on shallow groundwater chemistry, the isotope composition of dissolved inorganic carbon ( δ 13 C DIC ) and dissolved strontium ( 87 Sr/ 86 Sr) were evaluated as trace
Autor:
Romana Höftberger, Ignacio Málaga, Heather Sheriff, Frank Leypoldt, Thaís Armangue, Alfons Macaya, Itxaso Martí, Monica Vicente-Rasoamalala, Maarten J. Titulaer, Josep Dalmau, Miquel Raspall-Chaure, Michael Ke, Miguel Lafuente-Hidalgo, Charles Nichter, John A. Pugh, Carol A. Glaser
Publikováno v:
Annals of Neurology. 75:317-323
In 5 prospectively diagnosed patients with relapsing post-herpes simplex encephalitis (HSE), N-methyl-D-aspartate receptor (NMDAR) antibodies were identified. Antibody synthesis started 1 to 4 weeks after HSE, preceding the neurological relapse. Thre
Autor:
Liange Zheng, Charuleka Varadharajan, Ruth M. Tinnacher, Jens Birkholzer, Peter S. Nico, John D. Pugh, Richard A. Esposito, Robert Trautz, Hiram Castillo-Michel, Nicolas Spycher
Publikováno v:
International Journal of Greenhouse Gas Control. 19:183-211
Sequestration of carbon dioxide (CO 2 ) into deep geologic reservoirs is a potential approach for controlling the rise of CO 2 concentrations in the atmosphere. Proper characterization and permitting of storage sites is expected to include an assessm
Autor:
Panagiotis G. Kyrtatos, Stephen L. Hart, Michele J. Writer, Cameron W. McLeod, Gavin D. Kenny, John A. Pugh, Mark F. Lythgoe, Andrew S. Lowe, Edward White, Alison Bienemann, Steven S. Gill, Claudio Villegas-Llerena
Publikováno v:
Journal of Controlled Release
Gadolinium-labelled nanocomplexes offer prospects for the development of real-time, non-invasive imaging strategies to visualise the location of gene delivery by MRI. In this study, targeted nanoparticle formulations were prepared comprising a cation