Joanna M. Rusecka
Pl. Żelaznej Bramy 10
Warsaw, MZ 00136, Poland
Warsaw, MZ 00136, Poland
Last Updated: 09/26/2026
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Found 11 publications
PAK1 (p21-Activated Kinase 1) and Its Role in Neurodevelopmental Disorders-New Case Report and a Comprehensive Review.
Journal: International journal of molecular sciences
Published: October 31, 2025
Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.
Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.
Journal: Biomolecules
Published: September 04, 2025
Alpha-methylacyl-CoA racemase (AMACR) deficiency: report on novel patient and literature review.
Journal: Journal of applied genetics
Published: July 07, 2025
Familial 3M Syndrome - as an Example of Diagnostic Difficulties in Rare Genetic Syndromes.
Journal: The application of clinical genetics
Published: May 31, 2025
Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.
Journal: Journal of applied genetics
Published: May 21, 2025
Hypophosphatasia in children: From low alkaline phosphatase activity to diagnosis, genetic testing, and treatment options. A narrative review.
Journal: Advances in clinical and experimental medicine : official organ Wroclaw Medical University
Published: April 15, 2025
Autosomal dominant myopathy caused by a novel ISCU variant.
Journal: Frontiers in genetics
Published: April 03, 2025
RNase H1 Regulates Mitochondrial Transcription and Translation via the Degradation of 7S RNA.
Journal: Frontiers in genetics
Published: September 25, 2019
Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA.
Journal: Journal of applied genetics
Published: December 07, 2017
Showing 1-11 of 11
Last Updated: 09/26/2026