検索結果 - Hannah Tamary
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Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE) 著者: Aaron Seo, Süleyman Gülsüner, Sarah B. Pierce, Miri Ben‐Harosh, Hanna Shalev, Tom Walsh, Tanya Krasnov, Orly Dgany, Sergei Doulatov, Hannah Tamary, Akiko Shimamura, Mary‐Claire King
出版事項 2018Artigo -
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Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition 著者: Piotr Grabowski, Sebastian Hesse, Sebastian Hollizeck, Meino Rohlfs, Uta Behrends, Roya Sherkat, Hannah Tamary, Ekrem Ünal, Raz Somech, Türkan Patıroğlu, Stefan Canzar, Jutte van der Werff ten Bosch, Christoph Klein, Juri Rappsilber
出版事項 2019Artigo -
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Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation 著者: H. Heimpel, Klaus Schwarz, Monika Ebnöther, Jeroen S. Goede, D. Heydrich, Torsten Kamp, Lothar Plaumann, Bettina Rath, Jochen Roessler, O Schildknecht, Mathias Schmid, Walter A. Wuillemin, Beate Einsiedler, Rosi Leichtle, Hannah Tamary, E. Kohne
出版事項 2005Artigo -
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Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience 著者: Lydie Da Costa, Marie-Françoise O’Donohue, Birgit van Dooijeweert, Katarzyna Albrecht, Şule Ünal, Ugo Ramenghi, Thierry Leblanc, Irma Dianzani, Hannah Tamary, Marije Bartels, Pierre‐Emmanuel Gleizes, Marcin W. Włodarski, Alyson W. MacInnes
出版事項 2017Revisão -
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Triallelic and epigenetic-like inheritance in human disorders of telomerase 著者: Laura C. Collopy, Amanda J. Walne, Shirleny Cardoso, Josu de la Fuente, Mahfuzah Mohamed, Helga V. Toriello, Hannah Tamary, Adam J. Y. V. Ling, Timothy Lloyd, Rebecca Kassam, Hemanth Tummala, Thomas J. Vulliamy, Inderjeet Dokal
出版事項 2015Artigo -
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Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia 著者: Anja J. Gerrits, Emily Leven, Andrew L. Frelinger, Sophie L. Brigstocke, Michelle A. Berny‐Lang, W. Beau Mitchell, Shoshana Revel‐Vilk, Hannah Tamary, Sabrina L. Carmichael, Marc R. Barnard, Alan D. Michelson, James B. Bussel
出版事項 2015Artigo -
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Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3) 著者: Jérôme Feldmann, Isabelle Callebaut, Graça Raposo, Stéphanie Certain, Delphine Bacq, Cécile Dumont, Nathalie Lambert, O Marie, Gaëlle Chédeville, Hannah Tamary, Véronique Minard‐Colin, E Vilmer, Stéphane Blanche, Françoise Le Deist, Alain Fischer, Geneviève de Saint Basile
出版事項 2003Artigo -
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A comparative prospective observational study of children and adults with immune thrombocytopenia: 2‐year follow‐up 著者: Alexandra Schifferli, Andreas Holbro, Meera Chitlur, Michael Coslovsky, Paul Imbach, Hugo Donato, Mohsen Saleh Elalfy, Elena Graciela, John D. Grainger, Susanne Holzhauer, Cecilia Riccheri, Francesco Rodeghiero, Marco Ruggeri, Hannah Tamary, Т.А. Углова, Runhui Wu, Thomas Kühne
出版事項 2018Artigo -
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The European Guidelines on Diagnosis and Management of Neutropenia in Adults and Children: A Consensus Between the European Hematology Association and the EuNet-INNOCHRON COST Acti... 著者: Francesca Fioredda, Julia Skokowa, Hannah Tamary, Michail Spanoudakis, Piero Farruggia, António Almeida, Daniela Guardo, Petter Höglund, Peter E. Newburger, Jan Palmblad, Ivo P. Touw, Cornelia Zeidler, Alan J. Warren, David C. Dale, Karl Welte, Carlo Dufour, Helen Α. Papadaki
出版事項 2023Artigo -
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Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population 著者: Orna Steinberg‐Shemer, Tracie Goldberg, Joanne Yacobovich, Carina Levin, Ariel Koren, Shoshana Revel‐Vilk, Tal Ben‐Ami, Amir A. Kuperman, Vered Shkalim Zemer, Amos Toren, Joseph Kapelushnik, Ayelet Ben‐Barak, Hagit Miskin, Tanya Krasnov, Sharon Noy‐Lotan, Orly Dgany, Hannah Tamary
出版事項 2019Artigo -
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Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry 著者: Hannah Tamary, D. Nishri, Joanne Yacobovich, R. Zilber, Orly Dgany, T. Krasnov, Shraga Aviner, Polina Stepensky, S Ravel-Vilk, Menachem Bitan, Chaim Kaplinsky, A. Ben Barak, Ronit Elhasid, J. Kapelusnik, Ariel Koren, Carina Levin, Dina Attias, Ruth Laor, I. Yaniv, Philip S. Rosenberg, Blanche P. Alter
出版事項 2010Artigo -
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CATSPER2, a human autosomal nonsyndromic male infertility gene 著者: Nili Avidan, Hannah Tamary, Orly Dgany, D Cattan, Alexandre Pariente, Michel Thulliez, N. Borot, Lucien Moati, Alain Barthelme, Lea Shalmon, Tatyana Krasnov, Edna Ben‐Asher, Tsvyia Olender, Miriam Khen, Issac Yaniv, Rina Zaizov, Hanna Shalev, J. Delaunay, Marc Fellous, Doron Lancet, J. Beckmann
出版事項 2003Artigo -
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Recommendations regarding splenectomy in hereditary hemolytic anemias 著者: Achille Iolascon, Immacolata Andolfo, Wilma Barcellini, Francesco Corcione, Loïc Garçon, Lucia De Franceschi, Claudio Pignata, Giovanna Graziadei, Dagmar Pospı́šilová, David C. Rees, Mariane de Montalembert, Stefano Rivella, Antonella Gambale, Roberta Russo, Letícia Ribeiro, Jules Vives-Corrons, Patricia Martínez, Antonis Kattamis, Béatrice Gulbis, Maria Domenica Cappellini, Irene Roberts, Hannah Tamary
出版事項 2017Artigo -
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A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia 著者: Lionel Arnaud, Carole Saison, Virginie Helias, Nicole Lucien, Dominique Steschenko, Marie‐Catherine Giarratana, Claude Préhu, B. Foliguet, Lory Montout, Alexandre G. de Brevern, Alain Francina, Pierre Ripoche, Odile Fenneteau, Lydie Da Costa, Thierry Peyrard, Gail Coghlan, Niels Ove Illum, Henrik Birgens, Hannah Tamary, Achille Iolascon, J. Delaunay, Gil Tchernia, Jean‐Pierre Cartron
出版事項 2010Artigo
関連主題
Medicine
Biology
Genetics
Internal medicine
Gene
Pediatrics
Anemia
Haematopoiesis
Immunology
Stem cell
Bone marrow failure
Mutation
Phenotype
Biochemistry
Bone marrow
Cancer research
Cell biology
DNA repair
Disease
Fanconi anemia
Platelet
Surgery
Telomere
Transplantation
Allele
Bioinformatics
Chemotherapy
Computational biology
Congenital Neutropenia
DNA