Jolanta Tryfon

Novel mutation of <i>IL1RAPL1</i> gene in a nonspecific X‐linked mental retardation (MRX) family

Magdalena Nawara, Jakub Klapecki, Katarzyna Borg et al. · American Journal of Medical Genetics Part A · 2008 · 46 citations

Intrathecal Infusion of Autologous Adipose-Derived Regenerative Cells in Autoimmune Refractory Epilepsy: Evaluation of Safety and Efficacy

Elżbieta Szczepanik, Hanna Mierzewska, Dorota Antczak‐Marach et al. · Stem Cells International · 2020 · 43 citations · Full text

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of <i>PITX3</i> and the absence of <scp>L</scp>‐DOPA in the cerebrospinal fluid

Katarzyna Derwińska, Hanna Mierzewska, Alicja Goszczańska‐Ciuchta et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2012 · 19 citations

Sepiapterin reductase deficiency in a 2‐year‐old girl with incomplete response to treatment during short‐term follow‐up

Katarzyna Kuśmierska, Erwin E. W. Jansen, C. Jakobs et al. · Journal of Inherited Metabolic Disease · 2009 · 15 citations

The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

Krystyna Szymańska, Krzysztof Szczałuba, Agnieszka Ługowska et al. · BioMed Research International · 2014 · 11 citations · Full text