Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Beth Hudson"'
Autor:
Martine Doco-Fenzy, Smrithi Salian, Emma Palmer, Mariasavina Severino, Beth Hudson, Elisabetta Amadori, Martin Jakob Larsen, Christina Fagerberg, Lene Sperling, Lucas Herissant, Thi Tuyet Mai Nguyen, Carlo Minetti, Rani Sachdev, Anna C.E. Hurst, Valeria Capra, Annalaura Torella, Ieva Miceikaite, Pasquale Striano, Megan Boothe, Melanie Jennesson, Andrea Accogli, Vincenzo Nigro, Marcello Scala, Philippe M. Campeau, Tawfeg Ben-Omran, Michele Pinelli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e07c5935003afbd27fb4b8e19ad3868c
https://doi.org/10.1111/cge.14033/v2/response1
https://doi.org/10.1111/cge.14033/v2/response1
Autor:
Menio, Diane, Keller, Beth Hudson
Publikováno v:
Generations: Journal of the American Society on Aging, 2000 Jul 01. 24(2), 28-32.
Externí odkaz:
https://www.jstor.org/stable/44878438
Autor:
Anna C.E. Hurst, Christina Fagerberg, Lene Sperling, Marcello Scala, Lucas Herissant, Martine Doco-Fenzy, Emma Palmer, Beth Hudson, Melanie Jennesson, Martin Jakob Larsen, Elisabetta Amadori, Vincenzo Nigro, Andrea Accogli, Smrithi Salian, Pasquale Striano, Annalaura Torella, Michele Pinelli, Ieva Miceikaite, Megan Boothe, Valeria Capra, Tawfeg Ben-Omran, Mariasavina Severino, Thi Tuyet Mai Nguyen, Carlo Minetti, Rani Sachdev, Philippe M. Campeau
Publikováno v:
Salian, S, Scala, M, Nguyen, T T M, Severino, M, Accogli, A, Amadori, E, Torella, A, Pinelli, M, Hudson, B, Boothe, M, Hurst, A, Ben-Omran, T, Larsen, M J, Fagerberg, C R, Sperling, L, Miceikaite, I, Herissant, L, Doco-Fenzy, M, Jennesson, M, Nigro, V, Striano, P, Minetti, C, Sachdev, R K, Palmer, E E, Capra, V & Campeau, P M 2021, ' Epileptic encephalopathy caused by ARV1 deficiency : refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins ', Clinical Genetics, vol. 100, no. 5, pp. 607-614 . https://doi.org/10.1111/cge.14033
Early infantile epileptic encephalopathy 38 (EIEE38, MIM #617020) is caused by biallelic variants in ARV1, encoding a transmembrane protein of the endoplasmic reticulum with a pivotal role in glycosylphosphatidylinositol (GPI) biosynthesis. We ascert
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3fe22c0aedd460712ac6f3bb7a46121
http://hdl.handle.net/11588/873440
http://hdl.handle.net/11588/873440
Autor:
Stephanie Efthymiou, Julien Buratti, Farah Bibi, Omar Dabbagh, Perrine Charles, Julia Hoefele, Kristi J. Jones, Enrico Mingardo, Jeshurun C Kalanithy, Matias Wagner, Hessa S. Alsaif, Konrad Platzer, Henry Houlden, Jaya Punetha, Sandra T. Cooper, Jennifer E. Posey, Tikam Chand Dakal, Leigh B. Waddell, Holger Thiele, Elise Valkanas, Davut Pehlivan, Zeynep Coban Akdemir, Beth Hudson, Shahzad Haider, Haktan Bağış Erdem, Jawid M Fatih, Fowzan S. Alkuraya, Solveig Heide, Andreas Ziegler, Michelle Demos, Heiko Reutter, Paul R Mark, Dana Marafi, Vincenzo Salpietro, Steffen Syrbe, Meriel McEntagart, Delphine Héron, Ilaria Guella, Jennifer Burton, James R. Lupski, Natalia Dominik, Daniel G. MacArthur, Tipu Sultan, Wendy K. Chung, Annalisa Vetro, Ender Karaca, George E. Hoganson, Rhonda E. Schnur, Bhanupriya Dhabhai, Sarah A. O'Shea, Tadahiro Mitani, Volkan Okur, Emily C. Oates, Tobias T. Lindenberg, Renzo Guerrini, Benjamin Odermatt, Gabriel C. Dworschak, Öznur Yilmaz, Jill V. Hunter, Shalini N. Jhangiani, Boris Keren, Korbinian M. Riedhammer, Caroline Nava, Stanley Fahn, Reza Maroofian, Roy N. Alcalay
Publikováno v:
Genetics in Medicine
PURPOSE: To investigate the effect of PLXNA1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and to functionally characterize the zebrafish homologs plxna1a and plxna1b during development. METHODS: We
Autor:
Beth Hudson Ma
Publikováno v:
Journal of Elder Abuse & Neglect. 4:25-36
Abuse and neglect of nursing home residents are recognized as a major concern in the United States. The small amount of research conducted to date concerning the extent and correlates of the problem of abuse highlights the need for specialized staff
Autor:
Blake C. Ballif, Zheng Fan, Ryan N. Traylor, Beth S. Torchia, Lisa G. Shaffer, Jill A. Rosenfeld, Beth Hudson
Publikováno v:
Molecular Cytogenetics, Vol 2, Iss 1, p 17 (2009)
Molecular Cytogenetics
Molecular Cytogenetics
Background Of the fewer than 100 cases reported within the literature of constitutional deletions involving the long arm of chromosome 6, only five have been characterized using high-resolution microarray analysis. Reported 6q deletion patients show
Publikováno v:
Teleophthalmology ISBN: 9783540243373
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ebe410c497217f09fddc7b73d6fc4a2b
https://doi.org/10.1007/3-540-33714-8_17
https://doi.org/10.1007/3-540-33714-8_17
Autor:
Pete Bonasso, Cheryl E. Martin, Debra Schreckenghost, Carroll Thronesbery, Mary Beth Hudson, Tod Milam
Publikováno v:
SAE Technical Paper Series.
Autor:
Grace Hukushi, Beth Hudson
Publikováno v:
AORN Journal. 85:265-266
Autor:
Beth Hudson, Karl Pillemer
Publikováno v:
The Gerontologist. 33(1)
This article describes the development, implementation, and evaluation of a model abuse prevention curriculum designed for nursing assistants. Findings from the evaluation showed high satisfaction with the program and improvement on a number of indic