The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis

por Geryk, Jan, Krsička, Daniel, Vlčková, Markéta, Havlovicová, Markéta, Macek, Milan, Kremlíková Pourová, Radka
Publicado 2020

Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome

por Skrivan, Jiri, Jurovcik, Michal, Aksenovova, Zdenka, Astl, Jaromír, Kremlikova Pourova, Radka, Dytrych, Petra, Sieger, Tomas
Publicado 2021

Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism

por Musova, Zuzana, Hancarova, Miroslava, Havlovicova, Marketa, Pourova, Radka, Hrdlicka, Michal, Kraus, Josef, Trkova, Marie, Stejskal, David, Sedlacek, Zdenek
Publicado 2016

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature

por Tesner, Pavel, Drabova, Jana, Stolfa, Miroslav, Kudr, Martin, Kyncl, Martin, Moslerova, Veronika, Novotna, Drahuse, Kremlikova Pourova, Radka, Kocarek, Eduard, Rasplickova, Tereza, Sedlacek, Zdenek, Vlckova, Marketa
Publicado 2018

Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

por Costa, Alessia, Franková, Věra, Robert, Glenn, Macek, Milan, Patch, Christine, Alexander, Elizabeth, Arellanesova, Anna, Clayton-Smith, Jill, Hunter, Amy, Havlovicová, Markéta, Pourová, Radka, Pritchard, Marie, Roberts, Lauren, Zoubková, Veronika, Metcalfe, Alison
Publicado 2022

Correction to: Co‑designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

por Costa, Alessia, Franková, Věra, Robert, Glenn, Macek, Milan, Patch, Christine, Alexander, Elizabeth, Arellanesova, Anna, Clayton‑Smith, Jill, Hunter, Amy, Havlovicová, Markéta, Pourová, Radka, Pritchard, Marie, Roberts, Lauren, Zoubková, Veronika, Metcalfe, Alison
Publicado 2022

The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages

por Jackson, Leigh, O’Connor, Anita, Paneque, Milena, Curtisova, Vaclava, Lunt, Peter W., Pourova, Radka Kremlíková, Macek, Milan, Stefansdottir, Vigdis, Turchetti, Daniela, Campos, Mariana, Henneman, Lidewij, Godino, Lea, Skirton, Heather, Cornel, Martina C.
Publicado 2018

Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages

por Jackson, Leigh, O’Connor, Anita, Paneque, Milena, Curtisova, Vaclava, Lunt, Peter W., Pourova, Radka Kremlíková, MacekJr, Milan, Stefansdottir, Vigdis, Turchetti, Daniela, Campos, Mariana, Henneman, Lidewij, Godino, Lea, Skirton, Heather, Cornel, Martina C.
Publicado 2018

Axenfeld-Rieger syndrome: more than meets the eye

por Reis, Linda M., Maheshwari, Mohit, Capasso, Jenina, Atilla, Huban, Dudakova, Lubica, Thompson, Samuel, Zitano, Lia, Lay-Son, Guillermo, Lowry, R. Brian, Black, Jennifer, Lee, Joseph, Shue, Ann, Kremlikova Pourova, Radka, Vaneckova, Manuela, Skalicka, Pavlina, Jedlickova, Jana, Trkova, Marie, Williams, Bradley, Richard, Gabriele, Bachman, Kristine, Seeley, Andrea H., Costakos, Deborah, Glaser, Thomas M, Levin, Alex V., Liskova, Petra, Murray, Jeffrey C., Semina, Elena V.
Publicado 2023