Tadeusz Mazurczak

High Rate of Mosaicism in Tuberous Sclerosis Complex

Senno Verhoef, Lida Bakker, Anita M.P. Tempelaars et al. · The American Journal of Human Genetics · 1999 · 201 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

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 · 98 citations · Full text

Medicine, Neurology, Epilepsy +16

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8,18, and 21 in three patients

Joanna Pietrzak, Kristin Mrasek, Ewa Obersztyn et al. · Journal of Applied Genetics · 2007 · 96 citations

Life Sciences, Genetics, Molecular Genetics +15

Analysis of <i>CFTR</i>, <i>SPINK1</i>, <i>PRSS1</i> and <i>AAT</i> Mutations in Children With Acute or Chronic Pancreatitis

Agnieszka Sobczyńska‐Tomaszewska, Daniel Bąk, Beata Oralewska et al. · Journal of Pediatric Gastroenterology and Nutrition · 2006 · 74 citations

Medicine, Genetics, Pediatrics +13

Clinical and molecular‐cytogenetic studies in seven patients with ring chromosome 18

Paweł Stankiewicz, Izabela Brożek, Zofia Hélias‐Rodzewicz et al. · American Journal of Medical Genetics · 2001 · 60 citations

Life Sciences, Genetics, Molecular Genetics +15