المؤلفون: Aleksandra Maria Roztoczyńska, Dorota Roztoczyńska, Antoni Pyrkosz, Artur Mazur

المصدر: Pediatria Polska, Vol 99, Iss 1, Pp 94-98 (2024)

مصطلحات موضوعية: setd5, short stature, specific dysmorphia features., Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.termedia.pl/SETD5-gene-mutation-as-the-cause-of-short-stature,127,52488,1,1.htmlTest; https://doaj.org/toc/0031-3939Test; https://doaj.org/toc/2300-8660Test

الوصول الحر: https://doaj.org/article/3c4aef2f93424d63b65260548187ae77Test

المؤلفون: Elżbieta Drachal, Paweł Zapolnik, Łukasz Dembiński, Michał Zgurski, Antoni Pyrkosz

المصدر: Pediatria Polska, Vol 98, Iss 1, Pp 83-86 (2023)

مصطلحات موضوعية: short stature, jarcho‐levin syndrome (jls), spondylocostal dysostosis (scd), vertebral deformity., Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.termedia.pl/Spondylocostal-dysostosis-1-case-report-and-literature-review,127,50420,1,1.htmlTest; https://doaj.org/toc/0031-3939Test; https://doaj.org/toc/2300-8660Test

الوصول الحر: https://doaj.org/article/2f47ea69ea444a43b3dadd1f4d0dcdfeTest

المؤلفون: Michał Stefan, Paweł Zapolnik, Antoni Pyrkosz

المصدر: Pediatria Polska, Vol 97, Iss 3, Pp 264-268 (2022)

مصطلحات موضوعية: epilepsy, brain diseases, epileptic encephalopathy, deletion, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.termedia.pl/Deletion-of-the-RNF6-gene-in-a-patient-with-epileptic-encephalopathy-a-case-report-and-literature-review,127,47964,1,1.htmlTest; https://doaj.org/toc/0031-3939Test; https://doaj.org/toc/2300-8660Test

الوصول الحر: https://doaj.org/article/b84774d01cd04bfca8b331533852baa0Test

المؤلفون: Paweł Zapolnik, Antoni Pyrkosz

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 9, p 4785 (2022)

مصطلحات موضوعية: mucopolysaccharidosis I, genetic therapy, gene delivery, nanoparticles, nanoemulsions, review, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/23/9/4785Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/4b891c1bb2de4025b31bc413e3e12776Test

المؤلفون: Mateusz Dawidziuk, Tomasz Gambin, Ewelina Bukowska-Olech, Dorota Antczak-Marach, Magdalena Badura-Stronka, Piotr Buda, Edyta Budzynska, Jennifer Castaneda, Tatiana Chilarska, Elzbieta Czyzyk, Anna Eckersdorf-Mastalerz, Jolanta Fijak-Moskal, Dorota Gieruszczak-Bialek, Ewelina Glodek-Brzozowska, Alicja Goszczanska-Ciuchta, Malgorzata Grzeszykowska-Podymniak, Barbara Gurda, Anna Jakubiuk-Tomaszuk, Ewa Jamroz, Magdalena Janeczko, Dominika Jedlińska-Pijanowska, Marta Jurek, Dagmara Karolewska, Adela Kazmierczak, Teresa Kleist, Iwona Kochanowska, Malgorzata Krajewska-Walasek, Katarzyna Kufel, Anna Kutkowska-Kaźmierczak, Agata Lipiec, Dorota Maksym-Gasiorek, Anna Materna-Kiryluk, Hanna Mazurkiewicz, Michał Milewski, Tatsiana Pavina-Guglas, Aleksandra Pietrzyk, Renata Posmyk, Antoni Pyrkosz, Mariola Rudzka-Dybala, Ryszard Slezak, Marzena Wisniewska, Zofia Zalewska-Miszkurka, Elzbieta Szczepanik, Ewa Obersztyn, Monika Bekiesinska-Figatowska, Pawel Gawlinski, Wojciech Wiszniewski

المصدر: Genes, Vol 12, Iss 12, p 2014 (2021)

مصطلحات موضوعية: molecular genetics, neurology, high-throughput nucleotide sequencing, medical genetics, human genetics, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/12/12/2014Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/f50d3741c7df43adb6d63fef3d6057b7Test

المؤلفون: Paweł Zapolnik, Antoni Pyrkosz

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 11, p 5490 (2021)

مصطلحات موضوعية: mucopolysaccharidosis II, Hunter syndrome, adeno-associated viruses, genetic therapy, gene editing, review, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/22/11/5490Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/c30dba310f2b4c50986473f73ec048abTest

المؤلفون: Gabriela Betlej, Ewelina Bator, Antoni Pyrkosz, Aleksandra Kwiatkowska

المصدر: Genes, Vol 11, Iss 6, p 643 (2020)

مصطلحات موضوعية: monocytes, APE1, genetic stability, tissue homeostasis, chromosomal instability, TNFα, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/11/6/643Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/496f58e8c700440889f51c44cb350d61Test

المؤلفون: Anna Dabkowska-Huc, Piotr Skalba, Antoni Pyrkosz

المصدر: Case Reports in Genetics, Vol 2013 (2013)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-6544Test; https://doaj.org/toc/2090-6552Test

الوصول الحر: https://doaj.org/article/c1b2881ea73843cd99c3a1887ec20235Test

المؤلفون: Paweł Zapolnik, Antoni Pyrkosz

المصدر: BioTech; Volume 9; Issue 4; Pages: 22

مصطلحات موضوعية: molecular targeted therapy, neoplasms, oncogenes, review, RNF6

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/biotech9040022Test

الإتاحة: https://doi.org/10.3390/biotech9040022Test

المؤلفون: Dagmara Kaleta, Paweł Zapolnik, Anna Mazur, Antoni Pyrkosz

المصدر: Pediatria Polska. 95:249-254

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Hypoparathyroidism, business.industry, Kenny-Caffey Syndrome Type 2, Pediatrics, Perinatology and Child Health, Medicine, Hypocalcaemia, medicine.symptom, business, medicine.disease, Short stature

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4aff60694241aa8254f67b4ea3080bddTest
https://doi.org/10.5114/polp.2020.103491Test