Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

por Sowińska-Seidler, Anna, Olech, Ewelina M., Socha, Magdalena, Larysz, Dawid, Jamsheer, Aleksander
Publicado 2018

Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

por Sowińska-Seidler, Anna, Olech, Ewelina M., Socha, Magdalena, Larysz, Dawid, Jamsheer, Aleksander
Publicado 2018

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

por Walczak-Sztulpa, Joanna, Posmyk, Renata, Bukowska-Olech, Ewelina M., Wawrocka, Anna, Jamsheer, Aleksander, Oud, Machteld M., Schmidts, Miriam, Arts, Heleen H., Latos-Bielenska, Anna, Wasilewska, Anna
Publicado 2020