المؤلفون: Zoe Powis, Khalida Liaquat, Marc Meservey, Judy Louie, Sat Dev Batish

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101555- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424007015; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/d108c60b942845e382a1dfbe5c3a2266

المؤلفون: Zoe Powis, Meagan Nashawaty, Andrea Paal, Khalida Liaquat

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100299- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423002996; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/34d116a3f3624022b0fb5fb36b017949

المؤلفون: Kailey Owens, Jonathon Lutz, Zoe Powis

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100578- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423005782; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/025da3ebb71c4c5189d3df8935c67592

المؤلفون: Claudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, Antonella Riva, Alessandra D'Amico, Sara Cabet, Gaetan Lesca, Leonilda Bilo, Federico Zara, Catrinel Iliescu, Diana Barca, France Fung, Katherine Helbig, Xilma Ortiz-Gonzalez, Helenius J. Schelhaas, Marjolein H. Willemsen, Inge van der Linden, Laura Canafoglia, Carolina Courage, Samuele Gommaraschi, Pedro Gonzalez-Alegre, Tanya Bardakjian, Steffen Syrbe, Elisabeth Schuler, Johannes R. Lemke, Stella Vari, Gitte Roende, Mads Bak, Mahbulul Huq, Zoe Powis, Katrine M. Johannesen, Trine Bjørg Hammer, Rikke S. Møller, Rachel Rabin, John Pappas, Mary L. Zupanc, Neda Zadeh, Julie Cohen, Sakkubai Naidu, Ilona Krey, Russell Saneto, Jenny Thies, Laura Licchetta, Paolo Tinuper, Francesca Bisulli, Raffaella Minardi, Allan Bayat, Nathalie Villeneuve, Florence Molinari, Hormos Salimi Dafsari, Birk Moller, Marie Le Roux, Clara Houdayer, Marilena Vecchi, Isabella Mammi, Elena Fiorini, Jacopo Proietti, Sofia Ferri, Gaetano Cantalupo, Domenica Immacolata Battaglia, Maria Luigia Gambardella, Ilaria Contaldo, Claudia Brogna, Marina Trivisano, Angela De Dominicis, Stefania Maria Bova, Elena Gardella, Pasquale Striano, Antonietta Coppola

المساهمون: Cuccurullo, Claudia, Cerulli Irelli, Emanuele, Ugga, Lorenzo, Riva, Antonella, D'Amico, Alessandra, Cabet, Sara, Lesca, Gaetan, Bilo, Leonilda, Zara, Federico, Iliescu, Catrinel, Barca, Diana, Fung, France, Helbig, Katherine, Ortiz-Gonzalez, Xilma, Schelhaas, Helenius J., Willemsen, Marjolein H., van der Linden, Inge, Canafoglia, Laura, Courage, Carolina, Gommaraschi, Samuele, Gonzalez-Alegre, Pedro, Bardakjian, Tanya, Syrbe, Steffen, Schuler, Elisabeth, Lemke, Johannes R., Vari, Stella, Roende, Gitte, Bak, Mad, Huq, Mahbulul, Powis, Zoe, Johannesen, Katrine M., Bjørg Hammer, Trine, Møller, Rikke S., Rabin, Rachel, Pappas, John, Zupanc, Mary L., Zadeh, Neda, Cohen, Julie, Naidu, Sakkubai, Krey, Ilona, Saneto, Russell, Thies, Jenny, Licchetta, Laura, Tinuper, Paolo, Bisulli, Francesca, Minardi, Raffaella, Bayat, Allan, Villeneuve, Nathalie, Molinari, Florence, Salimi Dafsari, Hormo, Moller, Birk, Le Roux, Marie, Houdayer, Clara, Vecchi, Marilena, Mammi, Isabella, Fiorini, Elena, Proietti, Jacopo, Ferri, Sofia, Cantalupo, Gaetano, Immacolata Battaglia, Domenica, Luigia Gambardella, Maria, Contaldo, Ilaria, Brogna, Claudia, Trivisano, Marina, De Dominicis, Angela, Maria Bova, Stefania, Gardella, Elena, Striano, Pasquale, Coppola, Antonietta

مصطلحات موضوعية: dynein, infantile epileptic spasms syndrome, lissencephaly/pachygyria, MCDs, DYNC1H1-related epilepsy

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001260785600001; firstpage:2728; lastpage:2750; numberofpages:23; journal:EPILEPSIA; https://hdl.handle.net/11562/1141730

الاتاحة: https://hdl.handle.net/11562/1141730
https://doi.org/10.1111/epi.18054

المؤلفون: Zoe Powis, Marc Meservey, Khalida Liaquat, Emily Partack, Sat Dev Batish

المصدر: Genetics in Medicine. 24:S244-S245

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::78404dc2cc585bb47a2c762f54dee3e0
https://doi.org/10.1016/j.gim.2022.01.422

المؤلفون: Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé Angelini, Vincent Michaud, Julien Van-Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, Elliot Stolerman, Camerun Washington, Ray Louie, Brendan C Lanpher, Jennifer L Kemppainen, Micheil Innes, Frank Kooy, Marije Meuwissen, Alice Goldenberg, Francois Lecoquierre, Gabriella Vera, Karin E M Diderich, Beth Sheidley, Christelle Moufawad El Achkar, Meredith Park, Fadi F Hamdan, Jacques L Michaud, Ann J Lewis, Christiane Zweier, André Reis, Matias Wagner, Heike Weigand, Hubert Journel, Boris Keren, Sandrine Passemard, Cyril Mignot, Koen van Gassen, Eva H Brilstra, Gina Itzikowitz, Emily O'Heir, Jake Allen, Kirsten A Donald, Bruce Richard Korf, Tammi Skelton, Michelle Thompson, Nathaniel H Robin, Natasha L Rudy, William B Dobyns, Kimberly Foss, Yuri Alexander Zarate, Katherine A Bosanko, Yves Alembik, Benjamin Durand, Frederic Tran Mau-them, Emmanuelle Ranza, Xavier Blanc, Stylianos E Antonarakis, Kirsty McWalter, Erin Torti, Francisca Millan, Amy Dameron, Mari Tokita, Michael T Zimmermann, Eric W Klee, Amelie Piton, Benedicte Gerard

المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), U01 MH119689

المصدر: Journal of medical genetics
Journal of medical genetics, 2021, ⟨10.1136/jmedgenet-2021-107751⟩

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics, Heterozygote, Neurodevelopmental Disorders, Intellectual Disability, Argonaute Proteins, Genetics, Humans, Human medicine, RNA, Messenger, Amino Acids, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b088dcc0af2fd19d16c568153f3cbf9
https://pubmed.ncbi.nlm.nih.gov/34930816

المؤلفون: Laura, Bryant, Dong, Li, Samuel G, Cox, Dylan, Marchione, Evan F, Joiner, Khadija, Wilson, Kevin, Janssen, Pearl, Lee, Michael E, March, Divya, Nair, Elliott, Sherr, Brieana, Fregeau, Klaas J, Wierenga, Alexandrea, Wadley, Grazia M S, Mancini, Nina, Powell-Hamilton, Jiddeke, van de Kamp, Theresa, Grebe, John, Dean, Alison, Ross, Heather P, Crawford, Zoe, Powis, Megan T, Cho, Marcia C, Willing, Linda, Manwaring, Rachel, Schot, Caroline, Nava, Alexandra, Afenjar, Davor, Lessel, Matias, Wagner, Thomas, Klopstock, Juliane, Winkelmann, Claudia B, Catarino, Kyle, Retterer, Jane L, Schuette, Jeffrey W, Innis, Amy, Pizzino, Sabine, Lüttgen, Jonas, Denecke, Tim M, Strom, Kristin G, Monaghan, Zuo-Fei, Yuan, Holly, Dubbs, Renee, Bend, Jennifer A, Lee, Michael J, Lyons, Julia, Hoefele, Roman, Günthner, Heiko, Reutter, Boris, Keren, Kelly, Radtke, Omar, Sherbini, Cameron, Mrokse, Katherine L, Helbig, Sylvie, Odent, Benjamin, Cogne, Sandra, Mercier, Stephane, Bezieau, Thomas, Besnard, Sebastien, Kury, Richard, Redon, Karit, Reinson, Monica H, Wojcik, Katrin, Õunap, Pilvi, Ilves, A Micheil, Innes, Kristin D, Kernohan, Gregory, Costain, M Stephen, Meyn, David, Chitayat, Elaine, Zackai, Anna, Lehman, Hilary, Kitson, Martin G, Martin, Julian A, Martinez-Agosto, Stan F, Nelson, Christina G S, Palmer, Jeanette C, Papp, Neil H, Parker, Janet S, Sinsheimer, Eric, Vilain, Jijun, Wan, Amanda J, Yoon, Allison, Zheng, Elise, Brimble, Giovanni Battista, Ferrero, Francesca Clementina, Radio, Diana, Carli, Sabina, Barresi, Alfredo, Brusco, Marco, Tartaglia, Jennifer Muncy, Thomas, Luis, Umana, Marjan M, Weiss, Garrett, Gotway, K E, Stuurman, Michelle L, Thompson, Kirsty, McWalter, Constance T R M, Stumpel, Servi J C, Stevens, Alexander P A, Stegmann, Kristian, Tveten, Arve, Vøllo, Trine, Prescott, Christina, Fagerberg, Lone Walentin, Laulund, Martin J, Larsen, Melissa, Byler, Robert Roger, Lebel, Anna C, Hurst, Joy, Dean, Samantha A, Schrier Vergano, Jennifer, Norman, Saadet, Mercimek-Andrews, Juanita, Neira, Margot I, Van Allen, Nicola, Longo, Elizabeth, Sellars, Raymond J, Louie, Sara S, Cathey, Elly, Brokamp, Delphine, Heron, Molly, Snyder, Adeline, Vanderver, Celeste, Simon, Xavier, de la Cruz, Natália, Padilla, J Gage, Crump, Wendy, Chung, Benjamin, Garcia, Hakon H, Hakonarson, Elizabeth J, Bhoj

المصدر: Science Advances

مصطلحات موضوعية: endocrine system, SciAdv r-articles, Forkhead Transcription Factors, Neurodegenerative Diseases, Zebrafish Proteins, Histones, fluids and secretions, mental disorders, Genetics, Animals, Humans, Molecular Biology, reproductive and urinary physiology, Germ-Line Mutation, Zebrafish, Research Articles, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9b935d757ea4c034c49b726ecd6f074d
https://pubmed.ncbi.nlm.nih.gov/33268356

المؤلفون: Zoe Powis

مصطلحات موضوعية: Anthropology, Sociology, Style (sociolinguistics)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::783b55494a0004f69ef6f126602d6e3f
https://doi.org/10.1111/cge.13595/v2/review1

المؤلفون: Hudson Freeze, Bobby Ng, David Scott, Carlito Labrilla, Kimiyo Raymond, Zoe Powis, Sharon Suchy, Eissa Ali Faqeih, David Kronn, Brett Graham

مصطلحات موضوعية: Clinical sciences not elsewhere classified, Science & Technology, Life Sciences & Biomedicine, Endocrinology & Metabolism, Genetics & Heredity, Medicine, Research & Experimental, Research & Experimental Medicine, 110399 Clinical Sciences not elsewhere classified, 3202 Clinical sciences

Relation: http://hdl.handle.net/10536/DRO/DU:30151999; https://figshare.com/articles/conference_contribution/CONGENITAL_DISORDERS_OF_GLYCOSYLATION_IMPAIRED_FUCOSYLATION_AND_CHANGING_PERSPECTIVES/20662647

الاتاحة: http://hdl.handle.net/10536/DRO/DU:30151999
https://figshare.com/articles/conference_contribution/CONGENITAL_DISORDERS_OF_GLYCOSYLATION_IMPAIRED_FUCOSYLATION_AND_CHANGING_PERSPECTIVES/20662647

المؤلفون: Zoe Powis, Adam C. Chamberlin, Christina L. Alamillo, Sophia Ceulemans, Lynne M. Bird, Sha Tang

المصدر: Pediatric and Developmental Pathology.

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, Pediatrics, Perinatology and Child Health, General Medicine, Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f36c1775e7a77cd23c4ff76ae1f92306
https://doi.org/10.2350/16-05-1822-cr.1

المؤلفون: Sydney, Pettygrove, Zhenqiang, Lu, Jennifer G, Andrews, F John, Meaney, Daniel W, Sheehan, Elinora T, Price, Deborah J, Fox, Shree, Pandya, Lijing, Ouyang, Susan D, Apkon, Zoe, Powis, Christopher, Cunniff

المصدر: Musclenerve. 49(6)

مصطلحات موضوعية: Male, Incidence, Siblings, Age Factors, Prognosis, Article, Muscular Dystrophy, Duchenne, Scoliosis, Child, Preschool, Disease Progression, Humans, Cardiomyopathies, Child, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::da36f354bad8b3fa53c8f30a8a931acb
https://pubmed.ncbi.nlm.nih.gov/24030636