Ewa Jamroz

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Sharita Timal, Alexander Hoischen, Ludwig Lehle et al. · Human Molecular Genetics · 2012 · 170 citations

Mendelian Disorder, Genetic Disorder, Whole-exome Sequencing +14

Difficulties in differentiation of Parry–Romberg syndrome, unilateral facial sclerodermia, and Rasmussen syndrome

Justyna Paprocka, Ewa Jamroz, Dariusz Adamek et al. · Child s Nervous System · 2005 · 76 citations

Rasmussen Syndrome, Unilateral Facial Sclerodermia, Scleroderma +9

Agenesis of Corpus Callosum: Clinical Description and Etiology

Elżbieta Marszał, Ewa Jamroz, Jacek Pilch et al. · Journal of Child Neurology · 2000 · 59 citations

Neurological Disorder, Pathology, Anatomy +18

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Piekutowska‐Abramczuk et al. · European Journal of Paediatric Neurology · 2016 · 49 citations

Developmental Biology, Signal Transduction, Molecular Physiology +10

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

Wojciech Wiszniewski, Paweł Gawliński, Tomasz Gambin et al. · European Journal of Human Genetics · 2018 · 42 citations · Full text

Corticobasal Degeneration, Cerebral Cortical Development, Genetics +11