Osteopoikilosis and multiple exostoses caused by novel mutations in <it>LEMD3 </it>and <it>EXT1 </it>genes respectively - coincidence within one family by Horn Denise, Kolanczyk Mateusz, Jamsheer Aleksander, Baasanjav Sevjidmaa, Latos Tomasz, Hoffmann Katrin, Latos-Bielenska Anna, Mundlos Stefan

Get full text

Clinical heterogeneity of polish patients with KAT6B–related disorder by Klaniewska Magdalena, Bolanowska‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, Smigiel Robert

Get full text

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland by Zeyland Joanna, Krawczynski Maciej R, Skolozdrzy Joanna, Badura-Stronka Magdalena, Moszura Tomasz, Materna-Kiryluk Anna, Glazar Renata, Wisniewska Marzena, Wolnik-Brzozowska Danuta, Wozniak Anna, Bobkowski Waldemar, Slomski Ryszard, Latos-Bielenska Anna, Siwinska Aldona

Get full text