Zobrazeno 1 - 10
of 291
pro vyhledávání: '"Rozensztrauch A"'
Autor:
Śmigiel R, Królak-Olejnik B, Śniegórska D, Rozensztrauch A, Szafrańska A, Sasiadek MM, Wertheim-Tysarowska K
Publikováno v:
Balkan Journal of Medical Genetics, Vol 19, Iss 2, Pp 81-84 (2016)
Netherton Syndrome (NS) is a very rare genetic skin disease resulting from defects in the SPINK5 gene (encoding the protease inhibitor lympho-epithelial Kazal type inhibitor 1, LEKTI1). In this report, we provide a detailed clinical description of a
Externí odkaz:
https://doaj.org/article/89254a735eb04665bbd7aa137150a27d
Autor:
Agata Suleja, Katarzyna Milska-Musa, Łukasz Przysło, Marzena Bednarczyk, Marcin Kostecki, Dominik Cysewski, Paweł Matryba, Anna Rozensztrauch, Michał Dwornik, Marcin Opacki, Robert Śmigiel, Kacper Łukasiewicz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Angelman syndrome (AS) is a rare neurodevelopmental disease caused by imprinting disorders that impede the production of the ubiquitin E3A ligase protein (UBE3A). AS affects multiple systems, with the main symptoms including epile
Externí odkaz:
https://doaj.org/article/8a78ed5c3bf449f580b3452a7074d394
Publikováno v:
Pielęgniarstwo Neurologiczne i Neurochirurgiczne, Vol 13, Iss 1, Pp 9-16 (2024)
Introduction. Perinatal asphyxia is a common neonatal problem. It remains a leading cause of neonatal morbidity and mortality and plays a major role in motor and intellectual developmental deficits in children. Complications of cerebral hypoxia in as
Externí odkaz:
https://doaj.org/article/78930847a3ef473fad0a99dd593f68b0
Autor:
Rozensztrauch, Anna1 (AUTHOR) anna.rozensztrauch@umw.edu.pl, Basiak, Aleksander2 (AUTHOR) aleksander.basiak@umw.edu.pl, Twardak, Iwona1 (AUTHOR)
Publikováno v:
Journal of Clinical Medicine. Sep2024, Vol. 13 Issue 17, p5210. 13p.
Autor:
Telenga, Marlena1,2 (AUTHOR) marlena.telenga@student.umw.edu.pl, Rozensztrauch, Anna2 (AUTHOR), Giżewska-Kacprzak, Kaja3 (AUTHOR), Śmigiel, Robert1 (AUTHOR)
Publikováno v:
Journal of Clinical Medicine. May2024, Vol. 13 Issue 9, p2605. 13p.
Publikováno v:
Frontiers in Psychiatry, Vol 14 (2023)
BackgroundDown Syndrome (DS; OMIM #190685), known as trisomy 21, is one of the most common genetic disorders in the human population and the commonest known cause of intellectual disability. The study was conducted to investigate the quality of life
Externí odkaz:
https://doaj.org/article/6a0da6974cac4b95a646be0d6c9dd2ed
Autor:
The International EA-QOL Group, Michaela Dellenmark Blom, Stefanie Witt, Benjamin Zendejas, Ivana Sabolić, Juan Domingo Porras-Hernandez, Natalie Durkin, Simon Eaton, Kjersti Birketvedt, Alba Sánchez Galán, Katalin Eszter Müller, Anna Rozensztrauch, Tutku Soyer, Siqi Li, Anastasia Fourtaka, Corne de Vos, Graham Slater, Ana Špoljarić, John Bennett, Ragnhild Emblem, Zita Andrásdi, Robert Smigiel, Dariusz Patkowski, Çiğdem Ulukaya Durakbaşa, Marina Stilinović, Frederic Gottrand, Dora Škrljak Šoša, Tomislav Luetić, Sylwester Gerus, Shen Yang, Yong Zhao, Yichao Gu, Shuangshuang Li, Diego Rodriguez-Alvirde, Orsolya Kadenczki, Miram Pasini, Vuokko Wallace, Anke Widenmann, Feliciana Milagres Sikwete, Jinshi Huang, Leopoldo Martínez Martínez, Kate Abrahamsson, Shawn Izadi, Benno M Ure, Daniel Sidler, Julia H Quitmann, Jens Dingemann
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundEsophageal atresia (EA) is a rare congenital anomaly characterized by a discontinuity of the esophagus. Following surgical repair, survival rates have improved dramatically the past decenniums and today exceed 90%, but the children commonly
Externí odkaz:
https://doaj.org/article/4829ecacbcbb4ffebab6b964fbec1314
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Publikováno v:
In Journal of Neonatal Nursing October 2021 27(5):341-346
Autor:
Magdalena Kłaniewska, Malgorzata Rydzanicz, Joanna Kosińska, Mateusz Biela, Anna Walczak, Elżbieta Szmida, Anna Rozensztrauch, Rafał Płoski, Robert Śmigiel
Publikováno v:
Pediatria Polska, Vol 96, Iss 2, Pp 148-152 (2021)
CLOVES syndrome is a rare dysmorphic syndrome with multiple defects caused by somatic activating mutations in the PIK3CA gene on chromosome 3q26.32. There are currently less than 200 individuals worldwide living with CLOVES syndrome (OMIM: 612918, OR
Externí odkaz:
https://doaj.org/article/8cbc9b869ca44d05a73d2111c9516a41