M. Karpiński

Vascular Ehlers-Danlos syndrome in two Polish patients: identification of two novel COL3A1 gene mutations.

P. Coucke, A. Undas, S. Symoens, 2019, Kardiologia polska.

High detection rates of antithrombin deficiency and antiphospholipid syndrome in outpatients aged over 50 years using the standardized protocol for thrombophilia screening.

A. Undas, E. Wypasek, Sarah Goldman-Mazur, 2019, Thrombosis research.

Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish cases affected by hypertrophic cardiomyopathy.

I. Bottillo, P. Grammatico, L. Laino, 2020, Polish archives of internal medicine.

Venous thromboembolism associated with protein S deficiency due to $$\hbox {Arg}451^{*}$$Arg451∗ mutation in PROS1 gene: a case report and a literature review

A. Undas, E. Wypasek, M. Alhenc‐Gelas, 2017, Journal of Genetics.

Retinal nerve fiber thickness in inflammatory demyelinating diseases of childhood onset

M. Ramanathan, B. Weinstock-Guttman, A. Weinstock, 2009, Multiple sclerosis.

The Utility of Next-Generation Sequencing for Identifying the Genetic Basis of Dementia

A. Klimkowicz-Mrowiec, A. Gorzkowska, A. Dziubek, 2021, International journal of environmental research and public health.

Novel mutation in a patient with Charlevoix-Saguenay ataxia—a very rare disease with classical symptoms

A. Klimkowicz-Mrowiec, A. Dziubek, M. Sado, 2021, Neurological Sciences.

Alpha-2-antiplasmin Arg407Lys polymorphism and cryptogenic ischemic cerebrovascular events: Association with neurological deficit.

A. Szczudlik, K. Malinowski, A. Undas, 2017, Neurologia i neurochirurgia polska.

Cardiac magnetic resonance imaging in a woman suspected of hypertrophic cardiomyopathy based on genotyping.

M. Urbańczyk, E. Wypasek, P. Petkow-Dimitrow, 2018, Polish archives of internal medicine.

Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia

A. Klimkowicz-Mrowiec, A. Gorzkowska, A. Dziubek, 2019, BMC Neurology.