Whole-exome sequencing of a patient with severe and complex hemostatic abnormalities reveals a possible contributing frameshift mutation in C3AR1

por Leinøe, Eva, Nielsen, Ove Juul, Jønson, Lars, Rossing, Maria
Publicado 2016

Iron overload and iron chelating agent exposure in anemia-associated outer retinal degeneration: a case report and review of the literature

por Belmouhand, Mohamed, Eckmann-Hansen, Christina, Ilginis, Tomas, Leinøe, Eva Birgitte, Mortensen, Bo Kok, Larsen, Michael
Publicado 2021

Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen‐related genes

por Fager Ferrari, Marcus, Zetterberg, Eva, Rossing, Maria, Manon‐Jensen, Tina, Pehrsson, Martin, Karsdal, Morten A., Lykkesfeldt, Jens, Leinoe, Eva
Publicado 2020

Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE

por Smolag, Karolina I., Fager Ferrari, Marcus, Zetterberg, Eva, Leinoe, Eva, Ek, Torben, Blom, Anna M., Rossing, Maria, Martin, Myriam
Publicado 2021

Clinical management, ethics and informed consent related to multi‐gene panel‐based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH...

por Downes, Kate, Borry, Pascal, Ericson, Katrin, Gomez, Keith, Greinacher, Andreas, Lambert, Michele, Leinoe, Eva, Noris, Patrizia, Van Geet, Chris, Freson, Kathleen
Publicado 2020

The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark

por Leinøe, Eva, Brøns, Nanna, Rasmussen, Andreas Ørslev, Gabrielaite, Migle, Zaninetti, Carlo, Palankar, Raghavendra, Zetterberg, Eva, Rosthøj, Steen, Ostrowski, Sisse Rye, Rossing, Maria
Publicado 2021

Application of whole‐exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia...

por Leinøe, Eva, Zetterberg, Eva, Kinalis, Savvas, Østrup, Olga, Kampmann, Peter, Norström, Eva, Andersson, Nadine, Klintman, Jenny, Qvortrup, Klaus, Nielsen, Finn Cilius, Rossing, Maria
Publicado 2017

Platelet function testing: Current practice among clinical centres in Northern Europe

por Szanto, Timea, Zetterberg, Eva, Ramström, Sofia, Leinøe, Eva B., Holme, Pål A., Antovic, Jovan P., Holmström, Margareta, Onundarson, Pall T., Pikta, Marika, Vaide, Ines, Olsson, Anna, Magnusson, Maria, Kärkkäinen, Satu, Bitar, Manar, Poulsen, Lone Hvitfeldt, Lassila, Riitta
Publicado 2022

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thr...

por Megy, Karyn, Downes, Kate, Morel‐Kopp, Marie‐Christine, Bastida, José M., Brooks, Shannon, Bury, Loredana, Leinoe, Eva, Gomez, Keith, Morgan, Neil V., Othman, Maha, Ouwehand, Willem H., Perez Botero, Juliana, Rivera, José, Schulze, Harald, Trégouët, David‐Alexandre, Freson, Kathleen
Publicado 2021

A case of thrombocytopenia and multiple thromboses after vaccination with ChAdOx1 nCoV-19 against SARS-CoV-2

por Tølbøll Sørensen, Anne Louise, Rolland, Magalie, Hartmann, Jacob, Harboe, Zitta Barrella, Roed, Casper, Jensen, Tomas Ø., Kolte, Lilian, El Fassi, Daniel, Hillingsø, Jens, Radziwon-Balicka, Aneta, Soyka, Robert Sebastian, Hansen, Klaus, Kirkby, Nikolai, Goetze, Jens P., Gybel-Brask, Mikkel, Leinøe, Eva Birgitte, Hvas, Anne-Mette, Kampmann, Peter, Stensballe, Jakob
Publicado 2021