Ana Marín-Quilez (Ana Marín-Quílez)

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 7

Top Topics

Tyrosine Kinase

Mitochondrial Dna

Intellectual Disability

Top Venues

Journal of thrombosis and haemostasis : JTH

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

Publications

Ana Marín-Quilez, Christian Andrea Di Buduo, Rocío Benito, Alessandra Balduini, José Rivera, José Maria Bastida
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction. Platelets 34 (1) (2023)
Ana Marín-Quilez, Christian Andrea Di Buduo, Rocío Benito, Alessandra Balduini, José Rivera, José Maria Bastida
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction. Platelets 34 (1) (2023)
Ana Marín-Quilez, Christian Andrea Di Buduo, Rocío Benito, Alessandra Balduini, José Rivera, José Maria Bastida
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction. Platelets (2023)
Ana Marín-Quilez, Christian Andrea Di Buduo, Rocío Benito, Alessandra Balduini, José Rivera, José Maria Bastida
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction. Platelets 34 (1) (2023)
Ana Marín-Quilez, Christian Andrea Di Buduo, Lorena Díaz-Ajenjo, Vittorio Abbonante, Elena Vuelta, Paolo Maria M Soprano, Cristina Miguel-García, Sandra Santos-Minguez, Inmaculada Serramito-Gómez, Pedro Ruiz-Sala, M Jesús Peñarrubia, Emilia Pardal, Jesús María Hernández-Rivas, José Ramón González-Porras, Ignacio García-Tuñón, Rocío Benito, José Rivera, Alessandra Balduini, José Maria Bastida
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis. Blood (2022)
Ana Marín-Quilez, Elena Vuelta, Lorena Díaz-Ajenjo, Cristina Fernández-Infante, Ignacio García-Tuñón, Rocío Benito, Verónica Palma-Barqueros, Jesús María Hernández-Rivas, José Ramón González-Porras, José Rivera, José Maria Bastida
A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling. Journal of thrombosis and haemostasis : JTH 20 (5) (2022)
Verónica Palma-Barqueros, Loredana Bury, Shinji Kunishima, María Luisa Lozano, Agustín Rodríguez-Alén, Nuria Revilla, Natalia Bohdan, José Padilla, Maria Piedad Fernandez-Perez, María Eugenia de la Morena-Barrio, Ana Marín-Quilez, Rocío Benito, María Fernanda López-Fernández, Shally Marcellini-Antonio, Ana Zamora-Cánovas, Vicente Vicente, Constantino Martinez, Paolo Gresele, José Maria Bastida, José Rivera
Expanding the genetic spectrum of TUBB1-related thrombocytopenia. Blood advances (2021)