Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2)

por Pasińska, Magdalena, Łazarczyk, Ewelina, Jułga, Katarzyna, Bartnik-Głaska, Magdalena, Nowakowska, Beata, Haus, Olga
Publicado 2018

Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia

por Repczynska, Anna, Julga, Katarzyna, Skalska-Sadowska, Jolanta, Kacprzak, Magdalena M., Bartoszewska-Kubiak, Alicja, Lazarczyk, Ewelina, Loska, Damian, Drozniewska, Malgorzata, Czerska, Kamila, Wachowiak, Jacek, Haus, Olga
Publicado 2022