Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Andrea Paras"'
Autor:
Andrea Paras, Sarah Jurgensmeyer, Merlene Peter, Miguel Moran, Seema Shah, Sara Huston, Soo Shim, Katherine Kim
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101765- (2024)
Externí odkaz:
https://doaj.org/article/38e6e4afafd44ab2a164f6cbb2c6a44c
Publikováno v:
The Journal of Development Studies. :1-19
Autor:
Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S. Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Allan Bayat, Rikke S. Møller, Christina D. Fenger, Jens Erik Klint Nielsen, Anita N. Datta, Kathleen M. Gorman, Mary D. King, Natalia D. Linhares, Barbara K. Burton, Andrea Paras, Sian Ellard, Julia Rankin, Anju Shukla, Purvi Majethia, Rory J. Olson, Karthik Muthusamy, Lisa A. Schimmenti, Keith Starnes, Lucie Sedláčková, Katalin Štěrbová, Markéta Vlčková, Petra Laššuthová, Alena Jahodová, Brenda E. Porter, Nathalie Couque, Estelle Colin, Clément Prouteau, Corinne Collet, Thomas Smol, Roseline Caumes, Fleur Vansenne, Francesca Bisulli, Laura Licchetta, Richard Person, Erin Torti, Kirsty McWalter, Richard Webster, Elizabeth E. Gerard, Gaetan Lesca, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford, Gemma L. Carvill
Publikováno v:
Neurology
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
Background and ObjectivesKCNH5encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novoKCNH5variants.MethodsWe screened 893 individuals with developm
As NGOs have emerged as arguably the most prominent actors within the global development enterprise, their international activities and presence have grown to represent a key area of inquiry for development scholars. Existing literature on the geogra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a9174a46788d4f66ac7859b8f1ffd9
https://hdl.handle.net/10214/27536
https://hdl.handle.net/10214/27536
Autor:
Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S. Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Allan Bayat, Rikke S. Møller, Christina D. Fenger, Jens Erik Klint Nielsen, Anita N. Datta, Kathleen M. Gorman, Mary D. King, Natalia Linhares, Barbara K. Burton, Andrea Paras, Sian Ellard, Julia Rankin, Anju Shukla, Purvi Majethia, Rory J. Olson, Karthik Muthusamy, Lisa A Schimmenti, Keith Starnes, Lucie Sedláčková, Katalin Štěrbová, Markéta Vlčková, Petra Laššuthová, Alena Jahodová, Brenda E. Porter, Nathalie Couque, Estelle Colin, Clément Prouteau, Corinne Collet, Thomas Smol, Roseline Caumes, Fleur Vansenne, Francesca Bisulli, Laura Licchetta, Richard Person, Erin Torti, Kirsty McWalter, Richard Webster, Gaetan Lesca, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford, Gemma L. Carvill
ObjectiveKCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants.MethodsWe screened 893 individuals with developmental and epi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2fb9401b8e581a3f6ee5547c636a436
https://hal.archives-ouvertes.fr/hal-03817762
https://hal.archives-ouvertes.fr/hal-03817762
Autor:
Roeland A F Evers, Mariusz Ołtarzewski, Georg F. Hoffmann, Vincenzo Leuzzi, Emil Polak, Youngguo Yu, Maria Gizewska, Belén Pérez, Ana Chiesa, Marianne Rohrbach, Alexander V. Polyakov, Lena Fajkusova, Maja Stojiljkovic, Carla Carducci, Beat Thöny, Farès Namour, Jerry Vockley, Andrea Paras, Francjan J. van Spronsen, François Feillet, Sabine Scholl-Bürgi, Francesco Porta, Amaya Belanger-Quintana, Anastasia Skouma, Barbara K. Burton, Pedro E. Bonfim-Freitas, Sergey I. Kutsev, Johannes Zschocke, Uta Lichter-Konecki, Luiz Carlos Santana da Silva, Katya Kneller, Lourdes R. Desviat, Sven F. Garbade, Aviva Eliyahu, Alicia Hillert, Vera Stoppioni, Nenad Blau, Polina Gundorova, Norma Specola, Yair Anikster, John Christodoulou, Alberto Burlina, Maja Đorđević, Daniela Karall, Harvey L. Levy, Nan Shen, Friedrich K. Trefz, Ania C. Muntau
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We estimated that globally 0.45 million individuals have PKU, with global prev
Autor:
Andrea Paras, Lynne Mitchell
Publikováno v:
Experiential Learning and Teaching in Higher Education. 1:20
The old adage that travel broadens the mind may not hold true for every student studying abroad. While pre-departure and in-country support for intercultural learning can help, some students still fail to develop their intercultural competence and so
Autor:
Jane E. Hardy, Michael Carignan, Melanie Rathburn, Jodi Malmgren, Ashley A. Brenner, Andrea Paras
Publikováno v:
Frontiers: The Interdisciplinary Journal of Study Abroad. 31:22-45
With the proliferation of short term study abroad programs at institutions of higher education, there is a need for more rigorous assessment of how these pr ograms contribute to intercultural learning. This article presents a multi institutional comp
eP276: Development of an overdue outreach program to improve adherence to phenylketonuria management
Autor:
Erika Vucko, Joshua Baker, Kirsten Havens, Katie Arduini, Adriana Bueno, Heather Bausell, Anne Kozek, Andrea Paras, Soo Shim
Publikováno v:
Genetics in Medicine. 24:S174
Autor:
Andrea Paras, Lynne Mitchell
Publikováno v:
Intercultural Education. 29:321-339
Why do some study abroad students improve their intercultural skills, while others revert to less sophisticated ways of making sense of cultural difference? Both intercultural competence theory and...