Bianca Maas

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

Mari Tokita, Penny Chow, Ghayda Mirzaa et al. · European Journal of Human Genetics · 2014 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing <i>NSD1</i>: Is it really a reversed sotos syndrome?

Nicola Dikow, Bianca Maas, Harald Gaspar et al. · American Journal of Medical Genetics Part A · 2013 · 44 citations

Life Sciences, Genetics, Molecular Genetics +17

3p25.3 microdeletion of GABA transporters <i>SLC6A1</i> and <i>SLC6A11</i> results in intellectual disability, epilepsy and stereotypic behavior

Nicola Dikow, Bianca Maas, Stephanie Karch et al. · American Journal of Medical Genetics Part A · 2014 · 42 citations

Life Sciences, Genetics, Molecular Genetics +17

Mosaic deletion of <i>EXOC6B</i>: Further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability

Christina Evers, Bianca Maas, Karin A. Koch et al. · American Journal of Medical Genetics Part A · 2014 · 23 citations

Life Sciences, Genetics, Molecular Genetics +17

Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia

Ann-Sophie Kaiser, Bianca Maas, Anna Wolff et al. · European Journal of Human Genetics · 2014 · 18 citations

Life Sciences, Genetics, Human Genetics +8