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Cytogenetic and Genome Research|May 9, 2018
Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of CarriersPavel Tesner, Marketa Vlckova, Jana Drabova, et al.
Molecular Cytogenetics|May 16, 2018
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 literaturePavel Tesner, Jana Drabova, Miroslav Stolfa, et al.
Neurology. Genetics|November 3, 2022
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic StudyBarbora Straka, Barbora Hermanovska, Lenka Krskova, et al.
Human Mutation|February 7, 2018
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassemblyZuzana Slamova, Lusine Nazaryan-Petersen, Mana M Mehrjouy, et al.
European Journal of Medical Genetics|January 9, 2018
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotypeJana Paderova, Jana Drabova, Andrea Holubova, et al.
Human Molecular Genetics|March 6, 2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brainLachlan A Jolly, Lam Son Nguyen, Deepti Domingo, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 20, 2020
Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegenerationAnezka Belohlavkova, Katalin Sterbova, Cornelia Betzler, et al.
American Journal of Medical Genetics. Part A|January 18, 2018
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1Juliette Piard, James Lespinasse, Marketa Vlckova, et al.
The Journal of Clinical Investigation|May 5, 2015
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterationsAnindita Basak, Miroslava Hancarova, Jacob C Ulirsch, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 18, 2021
GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?Barbora Benova, Maurits W C B Sanders, Anna Uhrova-Meszarosova, et al.
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