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Showing results (21-30 of 37) with videos related to
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Haematologica
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December 23, 2017
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia
Roberta Bottega, Elena Nicchia, Enrico Cappelli, et al.
Molecular Genetics & Genomic Medicine
|
January 8, 2016
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology
Elena Nicchia, Chiara Greco, Daniela De Rocco, et al.
American Journal of Hematology
|
February 28, 2017
Mutations of RUNX1 in families with inherited thrombocytopenia
Daniela De Rocco, Federica Melazzini, Caterina Marconi, et al.
Thrombosis and Haemostasis
|
December 8, 2009
Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA
Walter H A Kahr, Anna Savoia, Fred G Pluthero, et al.
British Journal of Haematology
|
May 30, 2024
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene
Antonio Marzollo, Stefania Zampieri, Serena Barozzi, et al.
Thrombosis and Haemostasis
|
February 23, 2010
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
Anna Savoia, Daniela De Rocco, Emanuele Panza, et al.
Haematologica
|
September 22, 2011
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)
Patrizia Noris, Silverio Perrotta, Roberta Bottega, et al.
Haematologica
|
July 2, 2016
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia
Federica Melazzini, Flavia Palombo, Alessandra Balduini, et al.
Blood
|
April 7, 2011
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families
Patrizia Noris, Silverio Perrotta, Marco Seri, et al.
American Journal of Human Genetics
|
January 8, 2011
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2
Tommaso Pippucci, Anna Savoia, Silverio Perrotta, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 37) with videos related to
Sort By:
Page
of 4
Haematologica
|
December 23, 2017
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia
Roberta Bottega, Elena Nicchia, Enrico Cappelli, et al.
Molecular Genetics & Genomic Medicine
|
January 8, 2016
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology
Elena Nicchia, Chiara Greco, Daniela De Rocco, et al.
American Journal of Hematology
|
February 28, 2017
Mutations of RUNX1 in families with inherited thrombocytopenia
Daniela De Rocco, Federica Melazzini, Caterina Marconi, et al.
Thrombosis and Haemostasis
|
December 8, 2009
Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA
Walter H A Kahr, Anna Savoia, Fred G Pluthero, et al.
British Journal of Haematology
|
May 30, 2024
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene
Antonio Marzollo, Stefania Zampieri, Serena Barozzi, et al.
Thrombosis and Haemostasis
|
February 23, 2010
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
Anna Savoia, Daniela De Rocco, Emanuele Panza, et al.
Haematologica
|
September 22, 2011
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)
Patrizia Noris, Silverio Perrotta, Roberta Bottega, et al.
Haematologica
|
July 2, 2016
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia
Federica Melazzini, Flavia Palombo, Alessandra Balduini, et al.
Blood
|
April 7, 2011
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families
Patrizia Noris, Silverio Perrotta, Marco Seri, et al.
American Journal of Human Genetics
|
January 8, 2011
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2
Tommaso Pippucci, Anna Savoia, Silverio Perrotta, et al.
Page
of 4