X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes

by Aleksandra Rojek, Maciej R. Krawczynski, Aleksander Jamsheer, Anna Sowinska-Seidler, Barbara Iwaniszewska, Ewa Malunowicz, Marek Niedziela
Published 2016-01-01

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach

by Ewelina M. Olech, Tomasz Zemojtel, Anna Sowińska-Seidler, Peter N. Robinson, Stefan Mundlos, Marek Karczewski, Aleksander Jamsheer
Published 2016-05-01

The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings

by Anna Sowińska-Seidler, Paweł Sztromwasser, Paweł Sztromwasser, Katarzyna Zawadzka, Dawid Sielski, Ewelina Bukowska-Olech, Paweł Zawadzki, Paweł Zawadzki, Kazimierz Kozłowski, Aleksander Jamsheer, Aleksander Jamsheer
Published 2020-10-01