Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Syndrome and PIGA[original query] |
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PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. Neurology 2014 May 82 (18): 1587-96. Kato Mitsuhiro, Saitsu Hirotomo, Murakami Yoshiko, Kikuchi Kenjiro, Watanabe Shuei, Iai Mizue, Miya Kazushi, Matsuura Ryuki, Takayama Rumiko, Ohba Chihiro, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Hamano Shin-Ichiro, Osaka Hitoshi, Hayasaka Kiyoshi, Kinoshita Taroh, Matsumoto Naomic |
Clinical significance of acquired somatic mutations in aplastic anaemia. International journal of hematology 2016 Mar . Marsh J C W, Mufti G |
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Annals of neurology 2017 Mar 81 (3): 419-429. Olson Heather E, Kelly McKenna, LaCoursiere Christopher M, Pinsky Rebecca, Tambunan Dimira, Shain Catherine, Ramgopal Sriram, Takeoka Masanori, Libenson Mark H, Julich Kristina, Loddenkemper Tobias, Marsh Eric D, Segal Devorah, Koh Susan, Salman Michael S, Paciorkowski Alex R, Yang Edward, Bergin Ann M, Sheidley Beth Rosen, Poduri Annapur |
Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia 2020 May . Bayat Allan, Knaus Alexej, Pendziwiat Manuela, Afenjar Alexandra, Stefan Barakat Tahsin, Bosch Friedrich, Callewaert Bert, Calvas Patrick, Ceulemans Berten, Chassaing Nicolas, Depienne Christel, Endziniene Milda, Ferreira Carlos R, Moura de Souza Carolina Fischinger, Freihuber Cécile, Ganesan Shiva, Gataullina Svetlana, Guerrini Renzo, Guerrot Anne-Marie, Hansen Lars, Jezela-Stanek Aleksandra, Karsenty Caroline, Kievit Anneke, Kooy Frank R, Korff Christian M, Kragh Hansen Johanne, Larsen Martin, Layet Valérie, Lesca Gaetan, McBride Kim L, Meuwissen Marije, Mignot Cyril, Montomoli Martino, Moore Hannah, Naudion Sophie, Nava Caroline, Nougues Marie-Christine, Parrini Elena, Pastore Matthew, Schelhaas Jurgen H, Skinner Steven, Szczaluba Krzysztol, Thomas Ashley, Thomassen Mads, Tranebjaerg Lisbeth, van Slegtenhorst Marjon, Wolfe Lynne A, Lal Dennis, Gardella Elena, Bomme Ousager Lilian, Brünger Tobias, Helbig Ingo, Krawitz Peter, Møller Rikke |
Clinical and Molecular Determinants of Clonal Evolution in Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 9 41 (1): 132-142. Gurnari Carmelo, Pagliuca Simona, Prata Pedro Henrique, Galimard Jacques-Emmanuel, Catto Luiz Fernando B, Larcher Lise, Sebert Marie, Allain Vincent, Patel Bhumika J, Durmaz Arda, Pinto Andre L, Inacio Mariana C B, Hernandez Lucie, Dhedin Nathalie, Caillat-Zucman Sophie, Clappier Emmanuelle, Sicre de Fontbrune Flore, Voso Maria Teresa, Visconte Valeria, Peffault de Latour Régis, Soulier Jean, Calado Rodrigo T, Socié Gérard, Maciejewski Jaroslaw |
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- Page last updated:Apr 22, 2024
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