Zobrazeno 1 - 10
of 166
pro vyhledávání: '"S, Spena"'
The world is experiencing one of the most severe viral outbreaks in the last years, the pandemic infection by SARS-COV-2, causative agent of COVID-19 disease. The virus reached over 120 countries, with a total number of 6.5 million infected, and 3200
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7720f73af1f7053288a765c04c131a7a
https://doi.org/10.21203/rs.3.rs-50916/v1
https://doi.org/10.21203/rs.3.rs-50916/v1
Autor:
S. Spena, I. Garagiola, A. Cannavò, M. Mortarino, P.M. Mannucci, F.R. Rosendaal, F. Peyvandi, A. El‐Beshlawy, M. Elalfy, V. Ramanan, P. Eshghi, S. Hanagavadi, R. Varadarajan, M. Karimi, M.V. Manglani, C. Ross, G. Young, T. Seth, S. Apte, D.M. Nayak, E. Santagostino, M.E. Mancuso, A.C. Sandoval Gonzalez, J.N. Mahlangu, S. Bonanad Boix, M. Cerqueira, N.P. Ewing, C. Male, T. Owaidah, V. Soto Arellano, N.L. Kobrinsky, S. Majumdar, R. Perez Garrido, A. Sachdeva, M. Simpson, M. Thomas, E. Zanon, B. Antmen, K. Kavakli, M.J. Manco‐Johnson, M. Martinez, E. Marzouka, M.G. Mazzucconi, D. Neme, A. Palomo Bravo, R. Paredes Aguilera, A. Prezotti, K. Schmitt, B.M. Wicklund, B. Zulfikar
Publikováno v:
Journal of Thrombosis and Haemostasis, 16(4), 778-790
Essentials A residual factor VIII synthesis is likely to be protective towards inhibitor (INH) development. Mutation type-inhibitor risk association was explored in 231 patients with severe hemophilia A. A 2-fold increase in INH development for in si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1e9a72b721b6372724cd208ba2e3816
https://hdl.handle.net/1887/96174
https://hdl.handle.net/1887/96174
Akademický článek
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Autor:
Pepper, Niklas Benedikt1 (AUTHOR) niklas.pepper@ukmuenster.de, Prange, Nicholas Grischa1 (AUTHOR), Troschel, Fabian Martin1 (AUTHOR), Kröger, Kai1 (AUTHOR), Oertel, Michael1 (AUTHOR), Kuhlmann, Tanja2 (AUTHOR), Müther, Michael3 (AUTHOR), Grauer, Oliver4 (AUTHOR), Stummer, Walter3 (AUTHOR), Eich, Hans Theodor1 (AUTHOR) niklas.pepper@ukmuenster.de
Publikováno v:
Cancers. Nov2024, Vol. 16 Issue 21, p3652. 19p.
Autor:
Qian C; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China., Huang C; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China., Luo Q; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China., Qin K; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China., Wu Y; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China., Liao L; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China., Zhang Q; Organizing Personnel Section, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China., Xiang L; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China., Yan J; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China.
Publikováno v:
Journal of clinical laboratory analysis [J Clin Lab Anal] 2024 Dec; Vol. 38 (24), pp. e25123. Date of Electronic Publication: 2024 Dec 12.
Autor:
S, Spena, D, Milani, D, Rusconi, G, Negri, P, Colapietro, N, Elcioglu, F, Bedeschi, A, Pilotta, L, Spaccini, A, Ficcadenti, C, Magnani, G, Scarano, A, Selicorni, L, Larizza, C, Gervasini
Publikováno v:
Clinical genetics. 88(5)
The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide spectrum of multiple congenital anomalies, is primarily due to private mutations in CREBBP (ap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::748a9874c394d209ceeea35b86fed413
https://pubmed.ncbi.nlm.nih.gov/25388907
https://pubmed.ncbi.nlm.nih.gov/25388907
Autor:
Rosanna Asselta, Elena Santagostino, Maria Luisa Tenchini, Massimo Malcovati, S Spena, Pier Mannuccio Mannucci, Stefano Duga, Flora Peyvandi, Roberto Targhetta, Gavino Piseddu
Publikováno v:
Blood. 98:3685-3692
Congenital afibrinogenemia is a rare coagulation disorder with autosomal recessive inheritance, characterized by the complete absence or extremely reduced levels of fibrinogen in patients' plasma and platelets. Eight afibrinogenemic probands, with ve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64847520df404e824beaf3afc9518404
https://doi.org/10.1182/blood.v98.13.3685
https://doi.org/10.1182/blood.v98.13.3685
Autor:
G, Negri, D, Milani, P, Colapietro, F, Forzano, M, Della Monica, D, Rusconi, L, Consonni, L G, Caffi, P, Finelli, G, Scarano, C, Magnani, A, Selicorni, S, Spena, L, Larizza, C, Gervasini
Publikováno v:
Clinical genetics. 87(2)
Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and cognitive deficit. Mutations in two genes, CREBBP and EP300, encoding two
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8afae45729d32b6f9f49ff274f5177f6
https://pubmed.ncbi.nlm.nih.gov/24476420
https://pubmed.ncbi.nlm.nih.gov/24476420
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Akademický článek
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