Drahuše Novotná

A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17

Markéta Havlovičová, Drahuše Novotná, Eduard Kočárek et al. · American Journal of Medical Genetics Part A · 2006 · 93 citations · Full text

Cytogenetics, Genetics, Pathology +18

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

Zuzana Slamova, Lusine Nazaryan‐Petersen, Mana M. Mehrjouy et al. · Human Mutation · 2018 · 24 citations

Dna, Cytogenetics, Genetics +20

Fanconi anemia with biallelic FANCD1/BRCA2 mutations – Case report of a family with three affected children

Karel Švojgr, David Sumerauer, Alena Puchmajerová et al. · European Journal of Medical Genetics · 2015 · 15 citations

Genetics, Fanconi Anemia, Affected Children

Long term follow‐up in a patient with a de novo microdeletion of 14q11.2 involving <i>CHD8</i>

Jana Drabova, E Seemanová, Miroslava Hančárová et al. · American Journal of Medical Genetics Part A · 2015 · 11 citations

Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.

Gabriela Calounova, Drahuše Novotná, Martina Simandlová et al. · PubMed · 2006 · 10 citations