The Levels of Pregnancy-Associated Plasma Protein (PAPP-A) and Chorionic Gonadotropin (β-hCG) in the Blood Serum of Women with Hypothyroidism in the 1st Trimester of Pregnancy

por Pasińska, Magdalena, Balcerek, Emilia, Repczyńska, Anna, Łazarczyk, Ewelina
Publicado 2023

Prenatal identification of partial 3q duplication syndrome

por Pasińska, Magdalena, Adamczak, Rafał, Repczyńska, Anna, Łazarczyk, Ewelina, Iskra, Barbara, Runge, Agata Klaudia, Haus, Olga
Publicado 2019

Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation

por Pasińska, Magdalena, Łazarczyk, Ewelina, Repczyńska, Anna, Sobczyńska-Tomaszewska, Agnieszka, Zimowski, Janusz, Runge, Agata, Haus, Olga
Publicado 2022

Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population – case report

por Repczynska, Anna, Pastorczak, Agata, Babol-Pokora, Katarzyna, Skalska-Sadowska, Jolanta, Drozniewska, Malgorzata, Mlynarski, Wojciech, Haus, Olga
Publicado 2020

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