재정 지원 요구사항을 통해 공개된 자료 - achille iolascon자세히 알아보기
제공된 곳이 없음: 12
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Functional and Clinical Impact of Novel Tmprss6 Variants in Iron‐Refractory Iron‐Deficiency Anemia Patients and Genotype–Phenotype Studies
L De Falco, L Silvestri, C Kannengiesser, E Morán, C Oudin, M Rausa, ...
Human mutation 35 (11), 1321-1329, 2014
재정 지원 요구사항 정책: Fondazione Telethon, Italy, Government of Spain, Government of Italy
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Congenital erythropoietic porphyria linked to GATA 1‐R 216 W mutation: challenges for diagnosis
E Di Pierro, R Russo, Z Karakas, V Brancaleoni, A Gambale, I Kurt, ...
European Journal of Haematology 94 (6), 491-497, 2015
재정 지원 요구사항 정책: Fondazione Telethon, Italy, European Commission, Government of Italy
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Hereditary spherocytosis
A Iolascon, RA Avvisati, C Piscopo
Transfusion clinique et biologique 17 (3), 138-142, 2010
재정 지원 요구사항 정책: Fondazione Telethon, Italy
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Congenital dyserythropoietic anemias
A Iolascon, R Russo, J Delaunay
Current opinion in hematology 18 (3), 146-151, 2011
재정 지원 요구사항 정책: National Institute of Health and Medical Research, France, Fondazione …
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Peroxiredoxin-2: a novel regulator of iron homeostasis in ineffective erythropoiesis
A Matte, L De Falco, E Federti, A Cozzi, A Iolascon, S Levi, N Mohandas, ...
Antioxidants & redox signaling 28 (1), 1-14, 2018
재정 지원 요구사항 정책: Government of Italy
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Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II
S Unal, R Russo, F Gumruk, B Kuskonmaz, M Cetin, T Sayli, B Tavil, ...
Pediatric Transplantation 18 (4), E130-E133, 2014
재정 지원 요구사항 정책: Fondazione Telethon, Italy, European Commission, Government of Italy
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How I diagnose non-thalassemic microcytic anemias
M Bruno, L De Falco, A Iolascon
Seminars in hematology 52 (4), 270-278, 2015
재정 지원 요구사항 정책: Fondazione Telethon, Italy, European Commission, Government of Italy
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A genomic deletion causes truncation of α-spectrin and ellipto-poikilocytosis
A Iolascon, MJ King, S Robertson, RA Avvisati, F Vitiello, R Asci, ...
Blood Cells, Molecules, and Diseases 46 (3), 195-200, 2011
재정 지원 요구사항 정책: Fondazione Telethon, Italy
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Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
MP Leone, S Morlino, G Nardella, R Pracella, D Giachino, L Celli, D Baldo, ...
Human Genetics 142 (6), 785-808, 2023
재정 지원 요구사항 정책: Government of Italy
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Computational segmentation of nuclei and vacuoles based on statistical inference for tomographic phase microscopy in flow cytometry
D Pirone, V Bianco, M D’Agostino, J Lim, G Giugliano, F Merola, ...
Digital Holography and Three-Dimensional Imaging, M1A. 3, 2024
재정 지원 요구사항 정책: European Commission
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Toward the specificity in QPI 3D tomographic cell flow cytometry holography: recent achievements and perspectives in biomedical sciences
D Pirone, J Lim, F Merola, L Miccio, M Mugnano, V Bianco, M Valentino, ...
Quantitative Phase Imaging IX 12389, 1238902, 2023
재정 지원 요구사항 정책: Government of Italy
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Tomographic flow cytometry as the key-enabling technology for label-free liquid biopsy
P Memmolo, D Pirone, L Miccio, F Cimmino, I Kurelac, MM Villone, ...
2021 29th Mediterranean Conference on Control and Automation (MED), 267-272, 2021
재정 지원 요구사항 정책: Government of Italy
제공된 곳이 있음: 118
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Subgroup-specific structural variation across 1,000 medulloblastoma genomes
PA Northcott, DJH Shih, J Peacock, L Garzia, A Sorana Morrissy, ...
Nature 488 (7409), 49-56, 2012
재정 지원 요구사항 정책: US National Institutes of Health, Canadian Institutes of Health Research …
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Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
재정 지원 요구사항 정책: US National Institutes of Health, Health Research Board, Ireland, UK Medical …
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Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1
I Andolfo, SL Alper, L De Franceschi, C Auriemma, R Russo, L De Falco, ...
Blood, The Journal of the American Society of Hematology 121 (19), 3925-3935, 2013
재정 지원 요구사항 정책: Fondazione Telethon, Italy, Doris Duke Charitable Foundation
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Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism
DA Oldridge, AC Wood, N Weichert-Leahey, I Crimmins, R Sussman, ...
Nature 528 (7582), 418-421, 2015
재정 지원 요구사항 정책: US National Institutes of Health, National Institute for Health Research, UK …
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Integrative genomics identifies LMO1 as a neuroblastoma oncogene
K Wang, SJ Diskin, H Zhang, EF Attiyeh, C Winter, C Hou, RW Schnepp, ...
Nature 469 (7329), 216-220, 2011
재정 지원 요구사항 정책: US National Institutes of Health, Howard Hughes Medical Institute
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Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II
K Schwarz, A Iolascon, F Verissimo, NS Trede, W Horsley, W Chen, ...
Nature genetics 41 (8), 936-940, 2009
재정 지원 요구사항 정책: US National Institutes of Health, German Research Foundation
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Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma
SJ Diskin, M Capasso, RW Schnepp, KA Cole, EF Attiyeh, C Hou, ...
Nature genetics 44 (10), 1126-1130, 2012
재정 지원 요구사항 정책: US National Institutes of Health
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Whole-genome sequencing reveals host factors underlying critical COVID-19
A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ...
Nature 607 (7917), 97-103, 2022
재정 지원 요구사항 정책: US National Institutes of Health, UK Biotechnology and Biological Sciences …
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