Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Katarzyna Sobecka"'
Autor:
Maciej Geremek, Magdalena Paczkowska, Ewa Obersztyn, Beata Nowakowska, Marta Smyk, Katarzyna Sobecka, Lech Dudarewicz
Publikováno v:
Clinical Genetics. 97:634-638
We present a case of lethal fetal akinesia deformation sequence (FADS) caused by a frameshift variant in trans with a 148 kbp deletion encompassing 3-36 exons of AGRN. Pathogenic variants in AGRN have been described in families with a form of congeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbfe3268fe22d29cbf3521735eb1a0fe
https://doi.org/10.1111/cge.13677
https://doi.org/10.1111/cge.13677
Autor:
Katarzyna Sobecka, Michał Jarosz, Urszula Kowalska, Małgorzata Mizielińska, Patrycja Sumińska
Publikováno v:
PRZEMYSŁ CHEMICZNY. 1:175-178
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c43ddcbcf1d9a8c5ed37ed858824ee8d
https://doi.org/10.15199/62.2018.4.30
https://doi.org/10.15199/62.2018.4.30
Autor:
Patrycja Sumińska, Katarzyna Sobecka, Michał Jarosz, Urszula Kowalska, Małgorzata Mizielińska
Publikováno v:
PRZEMYSŁ CHEMICZNY. 1:170-174
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b0d36e9be82a2221ddbb8e1ec1c8932e
https://doi.org/10.15199/62.2018.4.29
https://doi.org/10.15199/62.2018.4.29
Publikováno v:
PRZEMYSŁ SPOŻYWCZY. 1:100-102
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3fd2099d3f196fd980df2e24904db159
https://doi.org/10.15199/65.2016.8.8
https://doi.org/10.15199/65.2016.8.8
Autor:
Iwona Kochanowska, Eric Boerwinkle, Barbara Steinborn, Beata Nowakowska, James R. Lupski, Tomasz Gambin, Antoni Pyrkosz, Mateusz Dawidziuk, Marta Jurek, Dorota Hoffman-Zacharska, Alicja Goszczańska-Ciuchta, Wojciech Wiszniewski, Ewa Jamroz, Jerzy Bal, Ender Karaca, Barbara Gurda, Tamar Harel, Piotr S. Iwanowski, Małgorzata Piotrowicz, Dorota Antczak-Marach, Natalia Bezniakow, Anna Jakubiuk-Tomaszuk, Dorota Gieruszczak-Białek, Iwona Terczyńska, Shalini N. Jhangiani, Elżbieta Szczepanik, Maria M. Sasiadek, Ewa Obersztyn, Pawel Wlasienko, Zeynep Coban Akdemir, Monika Bekiesińska-Figatowska, Małgorzata Kruk, Jennifer Castaneda, Mariola Rudzka-Dybała, Pawel Gawlinski, Katarzyna Sobecka, Richard A. Gibbs
Publikováno v:
European journal of human genetics : EJHG. 26(8)
Malformations of cortical development (MCDs) manifest with structural brain anomalies that lead to neurologic sequelae, including epilepsy, cerebral palsy, developmental delay, and intellectual disability. To investigate the underlying genetic archit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c469257bf39045e4265ca2c81434df7b
https://pubmed.ncbi.nlm.nih.gov/29706646
https://pubmed.ncbi.nlm.nih.gov/29706646
Publikováno v:
New Polymers for Encapsulation of Nutraceutical Compounds
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0225448b14530d3fc05b00725326189
https://doi.org/10.1002/9781119227625.ch1
https://doi.org/10.1002/9781119227625.ch1
Autor:
Katarzyna Sobecka
Publikováno v:
OPAKOWANIE. 1:64-65
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc59179372fec5a8d271024a32bcb05c
https://doi.org/10.15199/42.2018.2.1
https://doi.org/10.15199/42.2018.2.1
Autor:
Krzysztof, Szczałuba, Beata, Nowakowska, Katarzyna, Sobecka, Marta, Smyk, Jennifer, Castaneda, Jakub, Klapecki, Anna, Kutkowska-Kaźmierczak, Robert, Śmigiel, Ewa, Bocian, Marek, Radkowski, Urszula, Demkow
Publikováno v:
Advances in experimental medicine and biology. 912
Major congenital anomalies are detectable in 2-3 % of the newborn population. Some of their genetic causes are attributable to copy number variations identified by array comparative genomic hybridization (aCGH). The value of aCGH screening as a first
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1af1ae3dd7c44fae6dc079f0e9d6186a
https://pubmed.ncbi.nlm.nih.gov/26987320
https://pubmed.ncbi.nlm.nih.gov/26987320
Autor:
Urszula Demkow, Jennifer Castaneda, Ewa Bocian, Beata Nowakowska, Marek Radkowski, Krzysztof Szczałuba, Robert Śmigiel, Jakub Klapecki, Marta Smyk, Anna Kutkowska-Kaźmierczak, Katarzyna Sobecka
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9783319351032
Major congenital anomalies are detectable in 2–3 % of the newborn population. Some of their genetic causes are attributable to copy number variations identified by array comparative genomic hybridization (aCGH). The value of aCGH screening as a fir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd20a7f7e2d2fdd22771848f77ac637c
https://doi.org/10.1007/5584_2016_235
https://doi.org/10.1007/5584_2016_235