Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Ellen Moran"'
Autor:
Donna McDonald-McGinn, Victoria Giunta, T. Blaine Crowley, Daniel McGinn, Lydia Rockart, Audrey Green, Beverly Emanuel, Rosemarie Smith, Ellen Moran, Maciej Geremek, Elaine Zackai, Beata Nowakowska
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101114- (2024)
Externí odkaz:
https://doaj.org/article/7b82e408747a4a3cb7dcc0dc1a8f9d2e
Autor:
Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intel
Externí odkaz:
https://doaj.org/article/8bc14e835d25412b97b23f80259be0cf
Autor:
Jinglan Zhang, Véronik Lachance, Adam Schaffner, Xianting Li, Anastasia Fedick, Lauren E Kaye, Jun Liao, Jill Rosenfeld, Naomi Yachelevich, Mary-Lynn Chu, Wendy G Mitchell, Richard G Boles, Ellen Moran, Mari Tokita, Elizabeth Gorman, Kaytee Bagley, Wei Zhang, Fan Xia, Magalie Leduc, Yaping Yang, Christine Eng, Lee-Jun Wong, Raphael Schiffmann, George A Diaz, Ruth Kornreich, Ryan Thummel, Melissa Wasserstein, Zhenyu Yue, Lisa Edelmann
Publikováno v:
PLoS Genetics, Vol 12, Iss 4, p e1005848 (2016)
Genetic leukoencephalopathies (gLEs) are a group of heterogeneous disorders with white matter abnormalities affecting the central nervous system (CNS). The causative mutation in ~50% of gLEs is unknown. Using whole exome sequencing (WES), we identifi
Externí odkaz:
https://doaj.org/article/58d4941c9bb24969bfbc11da1f857ebc
Autor:
Anum Shafique, Beenish Arif, Mary Lynn Chu, Ellen Moran, Tooba Hussain, Francisca Millan Zamora, Elizabeth Wohler, Nara Sobreira, Christine Klein, Katja Lohmann, Sadaf Naz
Publikováno v:
Journal of Medical Genetics. 60:352-358
BackgroundDystonia involves repetitive movements and muscle contractions leading to abnormal postures. We investigated patients in two families, DYAF11 and M, exhibiting dystonic or involuntary movement disorders.MethodsClinical investigations were p
Autor:
James P. Hamilton, Kyle P. Horne, Mark E. Levenstein, Brandon Robinson, Alana Wakefield, Katie Lameyer, Austin Rickertsen, Madison Meuth, Noah Milder, Adam Wildman, Mary Ellen Moran, Ethan Taylor
Publikováno v:
Optical Manufacturing and Testing XIV.
Autor:
Rosanna Weksberg, Courtney Kiss, Marta Szybowska, Nina Ekhilevitch, Irina Anselm, David A. Sweetser, Michael Marble, Kristin Lindstrom, Cara Forster, Haley Streff, Renata C. Gallagher, John Pappas, Jessica Nance, Patricia G Wheeler, Melissa A. Walker, Grace Yoon, Carl E. Stafstrom, Weiyi Mu, Mary Kay Koenig, Wei Wang, Jane Juusola, Lauren C. Briere, Eric Muller, Julie S. Cohen, E. Hallie Andrew, Frances A. High, Cheryl Cytrynbaum, Jamie L. Fraser, Joel B. Krier, Hannah Meddaugh, Ali Fatemi, Robert E. Kingston, Kristin W. Barañano, Bridget Ostrem, Maria J. Guillen Sacoto, Ellen Moran, Marvin R. Natowicz, Karin Weiss, Erin Torti, Iva A. Tchasovnikarova, William J. Craigen, Cara Inglese, Andrea Guerin, Matthew J. Elrick, Devon Haynes, Chantal F. Morel, Adam L. Numis
Publikováno v:
Am J Hum Genet
MORC2 encodes an ATPase that plays a role in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous variants in MORC2 have been reported in individuals with autosomal-dominant Charcot-Marie-Tooth disease type 2Z and spinal mus
Publikováno v:
Soundings. 72:90-104
Five people involved in political education projects look at ways of creating approaches to political education that can assist in the development of a culturally inclusive, participatory and democratic left politics. Transforming political education
Autor:
Ulrike Hueffmeier, Cornelia Kraus, Miriam Reuter, Steffen Uebe, Mary-Alice Abbott, Syed Ahmed, Kristyn Rawson, Eileen Barr, Hong Li, ange-line bruel, Laurence Faivre, Frederic Tran Mau Them, Christina Botti, Susan Brooks, Kaitlyn Burns, Isum Ward, Marina Dutra-Clarke, Julian Martinez-Agosto, Hane Lee, Stanley Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie MacGaughran, Juergen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Rothschild, Maria Guillen Sacoto, Lindsay Henderson, Timothy Palculict, Sureni Mullegama, Houda Elloumi, Adi Reich, Samantha Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a3012b08b39e8a11e46330ffe77c2a4
https://doi.org/10.22541/au.160253804.44054844/v1
https://doi.org/10.22541/au.160253804.44054844/v1
Autor:
Mary Lynn Chu, Ellen Moran
Publikováno v:
Neurotherapeutics. 15:849-862
There has been an ever-expanding list of the Limb–Girdle Muscular Dystrophies (LGMD). There are currently 8 subtypes of autosomal dominant (AD) and 26 subtypes of autosomal recessive (AR) LGMD. Despite continued research efforts to conquer this gro
Autor:
Ellen Moran, Joanna Moir
Publikováno v:
Educational and Child Psychology. 35:51-64
AimThis study reports on an initiative to promote vocabulary development within three nurseries serving an area with high levels of multiple deprivation. Focusing on the use of books as a mechanism to introduce and extend children’s vocabulary, ear