Muriel Giansily-Blaizot

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 8

Top Topics

Bioinformatics Analysis

End Stage Renal Disease

Intellectual Disability

Top Venues

Haemophilia : the official journal of the World Federation of Hemophilia

American journal of hematology

This page only lists publications with an associated author ORCID identifier.

Publications

Samin Mohsenian, Roberta Palla, Marzia Menegatti, Andrea Cairo, Anna Lecchi, Alessandro Casini, Marguerite Neerman-Arbez, Rosanna Asselta, Sara Scardo, Siboni Simona Maria, Jan Blatny, Ondrej Zapletal, Jean-Francois Schved, Muriel Giansily-Blaizot, Susan Halimeh, Mohamad Ayman Daoud, Helen Platokouki, Helen Pergantou, Roger E G Schutgens, Monique Van Haaften-Spoor, Paul Brons, Britta Laros-van Gorkom, Elise Van Pinxten, Munira Borhany, Naveena Fatima, Danijela Mikovic, Marko Saracevic, Gül Nihal Özdemir, Yılmaz Ay, Michael P Makris, Caryl Lockley, Andrew D Mumford, Andrew Harvey, Steve Austin, Amy Shapiro, Adrianna Williamson, Catherine McGuinn, Ilene Goldberg, Philippe De Moerloose, Flora Peyvandi
Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database. Blood advances 8 (6) (2024)
Samin Mohsenian, Roberta Palla, Marzia Menegatti, Andrea Cairo, Anna Lecchi, Alessandro Casini, Marguerite Neerman-Arbez, Rosanna Asselta, Sara Scardo, Siboni Simona Maria, Jan Blatny, Ondrej Zapletal, Jean-Francois Schved, Muriel Giansily-Blaizot, Susan Halimeh, Mohamad Ayman Daoud, Helen Platokouki, Helen Pergantou, Roger E G Schutgens, Monique Van Haaften-Spoor, Paul Brons, Britta Laros-van Gorkom, Elise Van Pinxten, Munira Borhany, Naveena Fatima, Danijela Mikovic, Marko Saracevic, Gül Nihal Özdemir, Yılmaz Ay, Michael P Makris, Caryl Lockley, Andrew D Mumford, Andrew Harvey, Steve Austin, Amy Shapiro, Adrianna Williamson, Catherine McGuinn, Ilene Goldberg, Philippe De Moerloose, Flora Peyvandi
Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database. Blood advances 8 (6) (2024)
Samin Mohsenian, Roberta Palla, Marzia Menegatti, Andrea Cairo, Anna Lecchi, Alessandro Casini, Marguerite Neerman-Arbez, Rosanna Asselta, Sara Scardo, Siboni Simona Maria, Jan Blatný, Ondrej Zapletal, Jean-Francois Schved, Muriel Giansily-Blaizot, Susan Halimeh, Ayman Daoud, Helen Platokouki, Helen Pergantou, Roger E G Schutgens, Monique Van Haaften-Spoor, Paul Brons, Britta A P Laros-van Gorkom, Elise Van Pinxten, Munira Borhany, Naveena Fatima, Danijela Mikovic, Marko Saracevic, Gül Nihal Özdemir, Yılmaz Ay, Michael P Makris, Caryl Lockley, Andrew D Mumford, Andrew Harvey, Steven Kenneth Austin, Amy D Shapiro, Adrianna Williamson, Catherine McGuinn, Ilene Goldberg, Philippe De Moerloose, Flora Peyvandi
Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database. Blood advances (2024)
Dayana Shagidov, Noga Guttmann-Raviv, Séverine Cunat, Liora Frech, Muriel Giansily-Blaizot, Niraj Ghatpande, Gili Abelya, Gabriel A Frank, Patricia Aguilar Martinez, Esther G Meyron-Holtz
A newly identified ferritin L-subunit variant results in increased proteasomal subunit degradation, impaired complex assembly, and severe hypoferritinemia. American journal of hematology (2023)
Mathilde Filser, Betty Gardie, Mathieu Wemeau, Patricia Aguilar-Martinez, Muriel Giansily-Blaizot, François Girodon
Importance of Sequencing HBA1 , HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin. Genes 13 (1) (2022)
John H McVey, Pavithra M Rallapalli, Geoffrey Kemball-Cook, Daniel J Hampshire, Muriel Giansily-Blaizot, Keith Gomez, Stephen J Perkins, Christopher A Ludlam
The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers. Haemophilia : the official journal of the World Federation of Hemophilia 26 (2) (2020)
Muriel Giansily-Blaizot, Pavithra M Rallapalli, Stephen J Perkins, Geoffrey Kemball-Cook, Daniel J Hampshire, Keith Gomez, Christopher A Ludlam, John H McVey
The EAHAD blood coagulation factor VII variant database. Human mutation 41 (7) (2020)
Munira Borhany, Alexandre Ranc, Mathilde Fretigny, Grégory Moulis, Madiha Abid, Tahir Shamsi, Muriel Giansily-Blaizot
Molecular analysis of eight severe FV-deficient patients in Pakistan: A large series of homozygous for frameshift mutations. Haemophilia : the official journal of the World Federation of Hemophilia 25 (4) (2019)