Tomasz Mazurczak

Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

Melissa B. Ramocki, Magdalena Bartnik, Przemysław Szafrański et al. · The American Journal of Human Genetics · 2010 · 96 citations · Full text

Recurrent Distal 7Q11.23, Deletion Including Hip1, Ywhag Identified +5

The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy

Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas et al. · Epilepsia · 2019 · 92 citations · Full text

Different‐sized duplications of Xq28, including <i>MECP2</i>, in three males with mental retardation, absent or delayed speech, and recurrent infections

Marta Smyk, Ewa Obersztyn, Beata Nowakowska et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2007 · 60 citations

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

Magdalena Bartnik, Elżbieta Szczepanik, Katarzyna Derwińska et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2012 · 56 citations

Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling

Dorota Hoffman‐Zacharska, Tomasz Mazurczak, Tomasz Zajkowski et al. · Journal of Applied Genetics · 2016 · 12 citations