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收藏Hematological Landscape of Adult Patients with Diamond-Blackfan Anaemia Syndrome (DBAS): Results from the French DBA Cohort成人迪亚蒙德-布莱克芬贫血综合征（DBAS）患者的血液学特征：法国DBA队列研究的结果
Lecornec, Nicolas; Fontbrune, Flore Sicre de; Garcon, Loic; Forcade, Edouard; Terriou, Louis; Marie, Isabelle; Latour, Regis Peffault de; Dalle, Jean-Hugues; Da Costa, Lydie; Leblanc, Thierry 分享 收藏 An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variantsFellmann, Florence; Saunders, Carol; O'Donohue, Marie-Francoise; Reid, David W.; Mcfadden, Kelsey A.; Montel-Lehry, Nathalie; Yu, Cong; Fang, Mingyan; Zhang, Jianguo; Royer-Bertrand, Beryl; Farinelli, Pietro; Karboul, Narjesse; Willer, Jason R.; Fievet, Lorraine; Bhuiyan, Zahurul Alam; Kleinhenz, Alissa L. W.; Jadeau, Julie; Fulbright, Joy; Rivolta, Carlo; Renella, Raffaele; Katsanis, Nicholas; Beckmann, Jacques S.; V. Nicchitta, Christopher; Da Costa, Lydie; Davis, Erica E.; Gleizes, Pierre-Emmanuel 分享 收藏 分享 收藏 Systemic Inflammation and Normocytic Anemia in DOCK11 DeficiencyBlock, Jana; Rashkova, Christina; Castanon, Irinka; Zoghi, Samaneh; Platon, Jessica; Ardy, Rico C.; Fujiwara, Mitsuhiro; Chaves, Beatriz; Schoppmeyer, Rouven; van der Made, Caspar I.; Heredia, Raul Jimenez; Harms, Frederike L.; Alavi, Samin; Alsina, Laia; Moreno, Paula Sanchez; Polo, Rainiero Avila; Cabrera-Perez, Rocio; Bal, Sevgi Kostel; Pfajfer, Laurene; Ransmayr, Bernhard; Mautner, Anna-Katharina; Kondo, Ryohei; Tinnacher, Anna; Caldera, Michael; Schuster, Michael; Conde, Cecilia Dominguez; Platzer, Rene; Salzer, Elisabeth; Boyer, Thomas; Brunner, Han G.; Nooitgedagt-Frons, Judith E.; Iglesias, Estibaliz; Deya-Martinez, Angela; Camacho-Lovillo, Marisol; Menche, Joerg; Bock, Christoph; Huppa, Johannes B.; Pickl, Winfried F.; Distel, Martin; Yoder, Jeffrey A.; Traver, David; Engelhardt, Karin R.; Linden, Tobias; Kager, Leo; Hannich, J. Thomas; Hoischen, Alexander; Hambleton, Sophie; Illsinger, Sabine; Da Costa, Lydie; Kutsche, Kerstin; Chavoshzadeh, Zahra; van Buul, Jaap D.; Anton, Jordi; Calzada-Hernandez, Joan; Neth, Olaf; Viaud, Julien; Nishikimi, Akihiko; Dupre, Loic; Boztug, Kaan 分享 收藏 New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte DehydrationAllegrini, B.; Jedele, S.; Nguyen, L. David; Mignotet, M.; Rapetti-Mauss, R.; Etchebest, C.; Fenneteau, O.; Loubat, A.; Boutet, A.; Thomas, C.; Durin, J.; Petit, A.; Badens, C.; Garcon, L.; Da Costa, L.; Guizouarn, H. 分享 收藏 The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice PaperRoy, Noemi B. A.; Da Costa, Lydie; Russo, Roberta; Bianchi, Paola; del Mar Manu-Pereira, Maria; Fermo, Elisa; Andolfo, Immacolata; Clark, Barnaby; Proven, Melanie; Sanchez, Mayka; van Wijk, Richard; van der Zwaag, Bert; Layton, Mark; Rees, David; Iolascon, Achille 分享 收藏 分享 收藏 Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemiaColin, Elia; Courtois, Genevieve; Brouzes, Chantal; Pulman, Juliette; Rabant, Marion; Rotig, Agnes; Taffin, Helene; Lion-Lambert, Mathilde; Fabrega, Sylvie; Da Costa, Lydie; De Montalembert, Mariane; Salomon, Remi; Hermine, Olivier; Couronne, Lucile 分享 收藏 分享 收藏 Favorable outcomes of hematopoietic stem cell transplantation in children and adolescents with Diamond-Blackfan anemiaStrahm, Brigitte; Loewecke, Felicia; Niemeyer, Charlotte M.; Albert, Michael; Ansari, Marc; Bader, Peter; Bertrand, Yves; Burkhardt, Birgit; Da Costa, Lydie M.; Ferster, Alina; Fischer, Alexandra; Guengoer, Tayfun; Gruhn, Bernd; Hainmann, Ina; Kapp, Friedrich; Lang, Peter; Mueller, Ingo; Schulz, Ansgar; Szvetnik, Amina; Wlodarski, Marcin; Noellke, Peter; Leblanc, Thierry; Dalle, Jean-Hugues 分享 收藏 Genotype-phenotype association and variant characterization in Diamond Blackfan anemia caused by pathogenic variants in RPL35AGianferante, D. Matthew; Wlodarski, Marcin W.; Atsidaftos, Evangelia; Da Costa, Lydie; Delaporta, Polyxeni; Farrar, Jason E.; Goldman, Frederick D.; Hussain, Maryam; Kattamis, Antonis; Leblanc, Thierry; Lipton, Jeffrey M.; Niemeyer, Charlotte M.; Pospisilova, Dagmar; Quarello, Paola; Ramenghi, Ugo; Sankaran, Vijay G.; Vlachos, Adrianna; Volejnikova, Jana; Alter, Blanche P.; Savage, Sharon A.; Giri, Neelam 分享 收藏 Steroid resistance in Diamond Blackfan anemia associates with p57Kip2 dysregulation in erythroid progenitorsAshley, Ryan J.; Yan, Hongxia; Wang, Nan; Hale, John; Dulmovits, Brian M.; Papoin, Julien; Olive, Meagan E.; Udeshi, Nam Rata D.; Carr, Steven A.; Vlachos, Adrianna; Lipton, Jeffrey M.; Da Costa, Lydie; Hillyer, Christopher; Kinet, Sandrina; Taylor, Naomi; Mohandas, Narla; Narla, Anupama; Blanc, Lionel 分享 收藏 Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis PatientsBertocchio, Jean-Philippe; Genetet, Sandrine; Da Costa, Lydie; Walsh, Stephen B.; Knebelmann, Bertrand; Galimand, Julie; Bessenay, Lucie; Guitton, Corinne; De Lafaille, Renaud; Vargas-Poussou, Rosa; Eladari, Dominique; Mouro-Chanteloup, Isabelle 分享 收藏 Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolismLezzerini, Marco; Penzo, Marianna; O'donohue, Marie-Francoise; Vieira, Carolina Marques dos Santos; Saby, Manon; Elfrink, Hyung L.; Diets, Illja J.; Hesse, Anne-Marie; Coute, Yohann; Gastou, Marc; Nin-Velez, Alexandra; Nikkels, Peter G. J.; Olson, Alexandra N.; Zonneveld-Huijssoon, Evelien; Jongmans, Marjolijn C. J.; Zhang, GuangJun; van Weeghel, Michel; Houtkooper, Riekelt H.; Wlodarski, Marcin W.; Kuiper, Roland P.; Bierings, Marc B.; ten Bosch, Jutte van der Werff; Leblanc, Thierry; Montanaro, Lorenzo; Dinman, Jonathan D.; Da Costa, Lydie; Gleizes, Pierre-Emmanuel; MacInnes, Alyson W. 分享 收藏 RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short StatureLe Caignec, Cedric; Ory, Benjamin; Lamoureux, Franc Comma Ois; O'Donohue, Marie-Francoise; Orgebin, Emilien; Lindenbaum, Pierre; Teletchea, Stephane; Saby, Manon; Hurst, Anna; Nelson, Katherine; Gilbert, Shawn R.; Wilnai, Yael; Zeitlin, Leonid; Segev, Eitan; Tesfaye, Robel; Nizon, Mathilde; Cogne, Benjamin; Bezieau, Stephane; Geoffroy, Loic; Hamel, Antoine; Mayrargue, Emmanuelle; de Courtivron, Benoit; Decock-Giraudaud, Aliette; Charrier, Celine; Pichon, Olivier; Retiere, Christelle; Redon, Richard; Pepler, Alexander; McWalter, Kirsty; Da Costa, Lydie; Toutain, Annick; Gleizes, Pierre-Emmanuel; Baud'huin, Marc; Isidor, Bertrand 分享 收藏 分享 收藏 分享 收藏 分享 收藏 The Genetic Landscape of Diamond-Blackfan AnemiaUlirsch, Jacob C.; Verboon, Jeffrey M.; Kazerounian, Shideh; Guo, Michael H.; Yuan, Daniel; Ludwig, Leif S.; Handsaker, Robert E.; Abdulhay, Nour J.; Fiorini, Claudia; Genovese, Giulio; Lim, Elaine T.; Cheng, Aaron; Cummings, Beryl B.; Chao, Katherine R.; Beggs, Alan H.; Genetti, Casie A.; Sieff, Colin A.; Newburger, Peter E.; Niewiadomska, Edyta; Matysiak, Michal; Vlachos, Adrianna; Lipton, Jeffrey M.; Atsidaftos, Eva; Glader, Bertil; Narla, Anupama; Gleizes, Pierre-Emmanuel; O'Donohue, Marie-Francoise; Montel-Lehry, Nathalie; Amor, David J.; McCarroll, Steven A.; O'Donnell-Luria, Anne H.; Gupta, Namrata; Gabriel, Stacey B.; MacArthur, Daniel G.; Lander, Eric S.; Lek, Monkol; Da Costa, Lydie; Nathan, David G.; Korostelev, Andrei K.; Do, Ron; Sankaran, Vijay G.; Gazda, Hanna T. 分享 收藏 
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