Novel Variant of the SLC4A1 Gene Associated with Hereditary Spherocytosis

por Bogusławska, Dżamila M., Kraszewski, Sebastian, Skulski, Michał, Potoczek, Stanisław, Kuliczkowski, Kazimierz, Sikorski, Aleksander F.
Publicado 2023

A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis

por Bogusławska, Dżamila M., Heger, Elżbieta, Machnicka, Beata, Skulski, Michał, Kuliczkowski, Kazimierz, Sikorski, Aleksander F.
Publicado 2016

Efficient method for isolation of reticulocyte RNA from healthy individuals and hemolytic anaemia patients

por Skulski, Michał, Bartoszewski, Rafał, Majkowski, Michał, Machnicka, Beata, Kuliczkowski, Kazimierz, Sikorski, Aleksander F., Bogusławska, Dżamila M.
Publicado 2018

Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing

por Bogusławska, Dżamila M., Skulski, Michał, Machnicka, Beata, Potoczek, Stanisław, Kraszewski, Sebastian, Kuliczkowski, Kazimierz, Sikorski, Aleksander F.
Publicado 2021

A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5′-nucleotidase deficiency

por Bogusławska, Dżamila M., Skulski, Michał, Bartoszewski, Rafał, Machnicka, Beata, Heger, Elżbieta, Kuliczkowski, Kazimierz, Sikorski, Aleksander F.
Publicado 2022