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Publications by Maciej Pronicki
Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy
American Journal of Human Genetics
Genetics
New Perspective in Diagnostics of Mitochondrial Disorders: Two Years’ Experience With Whole-Exome Sequencing at a National Paediatric Centre
Journal of Translational Medicine
Biochemistry
Medicine
Genetics
Molecular Biology
Long-Term Outcome in Patients After Treatment for Cushing’s Disease in Childhood
PLoS ONE
Multidisciplinary
Neuropathological Characteristics of the Brain in Two Patients With SLC19A3 Mutations Related to the Biotin-Thiamine-Responsive Basal Ganglia Disease
Folia Neuropathologica
Forensic Medicine
Pathology
Neurology
Bilateral Striatal Necrosis Caused by ADAR Mutations in Two Siblings With Dystonia and Freckles-Like Skin Changes That Should Be Differentiated From Leigh Syndrome
Folia Neuropathologica
Forensic Medicine
Pathology
Neurology
Adalimumab for Endoscopic and Histopathological Mucosal Healing in Paediatric Patients With Moderate to Severe Crohn’s Disease
Przeglad Gastroenterologiczny
Gastroenterology
