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Piotr Gasperowicz

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European Journal of Medical Genetics|November 28, 2017
Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature reviewKrzysztof Szczałuba, Anna Biernacka, Krystyna Szymańska, et al.
American Journal of Medical Genetics. Part A|August 27, 2021
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathyMałgorzata Rydzanicz, Piotr Zwoliński, Piotr Gasperowicz, et al.
Cells|April 13, 2026
Alterations in Immunomodulatory Potential of ADSCs Undergoing Osteogenic Differentiation in the Context of Future Therapeutic ApplicationsIlona Szabłowska-Gadomska, Stefan Rudziński, Agnieszka Mroczko, et al.
Journal of Applied Genetics|October 20, 2017
Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicityMałgorzata Rydzanicz, Teresa Joanna Stradomska, Elżbieta Jurkiewicz, et al.
Journal of Applied Genetics|September 23, 2020
Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature reviewKrzysztof Szczałuba, Ewa Makuła, Anna Piórecka-Makuła, et al.
Investigative Ophthalmology & Visual Science|April 18, 2019
Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage LociMichal Kabza, Justyna A Karolak, Malgorzata Rydzanicz, et al.
American Journal of Medical Genetics. Part A|February 3, 2022
Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosisMałgorzata Rydzanicz, Wojciech Glinkowski, Anna Walczak, et al.
Genes|September 28, 2023
Epigenetic Findings in Twins with Esophageal AtresiaMichal Błoch, Piotr Gasperowicz, Sylwester Gerus, et al.
Brain Sciences|November 21, 2020
Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune SyndromeMagdalena Machnikowska-Sokołowska, Jacek Pilch, Justyna Paprocka, et al.
Muscle & Nerve|September 20, 2018
The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 geneMaria Jędrzejowska, Emilia Dębek, Bartłomiej Kowalczyk, et al.
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Showing results (1-10 of 27) with videos related to

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Pageof 3
European Journal of Medical Genetics|November 28, 2017
Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature reviewKrzysztof Szczałuba, Anna Biernacka, Krystyna Szymańska, et al.
American Journal of Medical Genetics. Part A|August 27, 2021
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathyMałgorzata Rydzanicz, Piotr Zwoliński, Piotr Gasperowicz, et al.
Cells|April 13, 2026
Alterations in Immunomodulatory Potential of ADSCs Undergoing Osteogenic Differentiation in the Context of Future Therapeutic ApplicationsIlona Szabłowska-Gadomska, Stefan Rudziński, Agnieszka Mroczko, et al.
Journal of Applied Genetics|October 20, 2017
Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicityMałgorzata Rydzanicz, Teresa Joanna Stradomska, Elżbieta Jurkiewicz, et al.
Journal of Applied Genetics|September 23, 2020
Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature reviewKrzysztof Szczałuba, Ewa Makuła, Anna Piórecka-Makuła, et al.
Investigative Ophthalmology & Visual Science|April 18, 2019
Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage LociMichal Kabza, Justyna A Karolak, Malgorzata Rydzanicz, et al.
American Journal of Medical Genetics. Part A|February 3, 2022
Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosisMałgorzata Rydzanicz, Wojciech Glinkowski, Anna Walczak, et al.
Genes|September 28, 2023
Epigenetic Findings in Twins with Esophageal AtresiaMichal Błoch, Piotr Gasperowicz, Sylwester Gerus, et al.
Brain Sciences|November 21, 2020
Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune SyndromeMagdalena Machnikowska-Sokołowska, Jacek Pilch, Justyna Paprocka, et al.
Muscle & Nerve|September 20, 2018
The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 geneMaria Jędrzejowska, Emilia Dębek, Bartłomiej Kowalczyk, et al.
Pageof 3