Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report

por Bezdíčka, Martin, Zemková, Dana, Skálová, Sylva, Hovorková, Eva, Podhola, Miroslav, Burkert, Jan, Zieg, Jakub
Publicado 2021

A comprehensive validation study of the latest version of BoneXpert on a large cohort of Caucasian children and adolescents

por Maratova, Klara, Zemkova, Dana, Sedlak, Petr, Pavlikova, Marketa, Amaratunga, Shenali Anne, Krasnicanova, Hana, Soucek, Ondrej, Sumnik, Zdenek
Publicado 2023

Familial Short Stature - a Novel Phenotype of Growth Plate Collagenopathies

por Plachy, Lukas, Dusatkova, Petra, Maratova, Klara, Petruzelkova, Lenka, Kolouskova, Stanislava, Snajderova, Marta, Obermannova, Barbora, Zemkova, Dana, Sumnik, Zdenek, Lebl, Jan, Pruhova, Stepanka
Publicado 2021

Analysis of children with familial short stature: who should be indicated for genetic testing?

por Plachy, Lukas, Petruzelkova, Lenka, Dusatkova, Petra, Maratova, Klara, Zemkova, Dana, Elblova, Lenka, Neuman, Vit, Kolouskova, Stanislava, Obermannova, Barbora, Snajderova, Marta, Sumnik, Zdenek, Lebl, Jan, Pruhova, Stepanka
Publicado 2023

Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?

por Plachy, Lukas, Amaratunga, Shenali Anne, Dusatkova, Petra, Maratova, Klara, Neuman, Vit, Petruzelkova, Lenka, Zemkova, Dana, Obermannova, Barbora, Snajderova, Marta, Kolouskova, Stanislava, Sumnik, Zdenek, Lebl, Jan, Pruhova, Stepanka
Publicado 2023