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Deep intronic variations may cause mild hemophilia A

Journal of thrombosis and haemostasis, 2011-08, Vol.9 (8), p.1541-1548

2011

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Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A

Journal of thrombosis and haemostasis, 2009-11, Vol.7 (11), p.1824-1831

2009

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Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies

Journal of thrombosis and haemostasis, 2010-12, Vol.8 (12), p.2736-2742

2010

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The spectrum of factor XI deficiency in Italy

Haemophilia : the official journal of the World Federation of Hemophilia, 2014-01, Vol.20 (1), p.106-113

2014

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Reduced von Willebrand factor secretion is associated with loss of Weibel–Palade body formation

Journal of thrombosis and haemostasis, 2012-05, Vol.10 (5), p.951-958

2012

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Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype

Journal of thrombosis and haemostasis, 2010-09, Vol.8 (9), p.2011-2016

2010

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F8 mRNA studies in haemophilia A patients with different splice site mutations

Haemophilia : the official journal of the World Federation of Hemophilia, 2010-09, Vol.16 (5), p.786-790

2010

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Further evidence of heterogeneity of gene defects in Italian families with factor XIII deficiency

Haemophilia : the official journal of the World Federation of Hemophilia, 2012-01, Vol.18 (1), p.e6-e8

2012

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Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A

Journal of human genetics, 2008-03, Vol.53 (3), p.275-284

2008

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Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene

Haemophilia : the official journal of the World Federation of Hemophilia, 2007-05, Vol.13 (3), p.311-316

2007

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Molecular characterization of five Italian families with inherited severe factor XIII deficiency

Haemophilia : the official journal of the World Federation of Hemophilia, 2008-01, Vol.14 (1), p.96-102

2008

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Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bβ and γ chain mutations

Haemophilia : the official journal of the World Federation of Hemophilia, 2008-05, Vol.14 (3), p.630-633

2008

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Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations

Haematologica (Roma), 2008-06, Vol.93 (6), p.957-958

2008

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Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bbeta and gamma chain mutations

Haemophilia : the official journal of the World Federation of Hemophilia, 2008-05, Vol.14 (3), p.630

2008

Volltextzugriff (PDF)

Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bbeta and gamma chain mutations

Haemophilia : the official journal of the World Federation of Hemophilia, 2008, Vol.14 (3), p.630-633

2008

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Purinergic receptors in neurogenic processes

Brain research bulletin, 2019-09, Vol.151, p.3-11

2019

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Microglial Pro-Inflammatory and Anti-Inflammatory Phenotypes Are Modulated by Translocator Protein Activation

International journal of molecular sciences, 2019-09, Vol.20 (18), p.4467

2019

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Low Serum IGF-1 in Boys with Recent Onset of Juvenile Idiopathic Arthritis

Journal of Immunology Research, 2018-01, Vol.2018, p.3856897-10

2018

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Risk of bleeding and thrombosis in inherited qualitative fibrinogen disorders

European journal of haematology, 2019-10, Vol.103 (4), p.379-384

2019

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MDM2 and MDM4 Are Therapeutic Vulnerabilities in Malignant Rhabdoid Tumors

Cancer research (Chicago, Ill.), 2019-05, Vol.79 (9), p.2404-2414

2019

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Television watching increases motivated responding for food and energy intake in children

The American journal of clinical nutrition, 2007-02, Vol.85 (2), p.355-361

2007

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An alternative splicing switch in FLNB promotes the mesenchymal cell state in human breast cancer

eLife, 2018-07, Vol.7

2018

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Optimizing spectral quality with quantum dots to enhance crop yield in controlled environments

Communications biology, 2021-01, Vol.4 (1), p.124-9, Article 124

2021

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Massively parallel phenotyping of coding variants in cancer with Perturb-seq

Nature biotechnology, 2022-06, Vol.40 (6), p.896-905

2022

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The Oligomeric Stromal Proteome of Arabidopsis thaliana Chloroplasts

Molecular & cellular proteomics, 2006-01, Vol.5 (1), p.114-133

2006

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Deep intronic variations may cause mild hemophilia A

Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A

Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies

The spectrum of factor XI deficiency in Italy

Reduced von Willebrand factor secretion is associated with loss of Weibel–Palade body formation

Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype

F8 mRNA studies in haemophilia A patients with different splice site mutations

Further evidence of heterogeneity of gene defects in Italian families with factor XIII deficiency

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A

Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene

Molecular characterization of five Italian families with inherited severe factor XIII deficiency

Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bβ and γ chain mutations

Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations

Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bbeta and gamma chain mutations

Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bbeta and gamma chain mutations

Purinergic receptors in neurogenic processes

Microglial Pro-Inflammatory and Anti-Inflammatory Phenotypes Are Modulated by Translocator Protein Activation

Low Serum IGF-1 in Boys with Recent Onset of Juvenile Idiopathic Arthritis

Risk of bleeding and thrombosis in inherited qualitative fibrinogen disorders

MDM2 and MDM4 Are Therapeutic Vulnerabilities in Malignant Rhabdoid Tumors

Television watching increases motivated responding for food and energy intake in children

An alternative splicing switch in FLNB promotes the mesenchymal cell state in human breast cancer

Optimizing spectral quality with quantum dots to enhance crop yield in controlled environments

Massively parallel phenotyping of coding variants in cancer with Perturb-seq

The Oligomeric Stromal Proteome of Arabidopsis thaliana Chloroplasts

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