المؤلفون: Hitti-Malin, Rebekkah, Panneman, Daan, Corradi, Zelia, Boonen, Erica, Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard, Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek, Matynia, Anna, Gorin, Michael, Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel, Li, Catherina, Klaver, Caroline, Inglehearn, Chris, Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo, Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea, Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan, van den Born, L, McLaren, Terri, De Roach, John, Lamey, Tina, Thompson, Jennifer, Chen, Fred, Tracewska, Anna, Kamakari, Smaragda, Sallum, Juliana, Bolz, Hanno, Kayserili, Hülya, Roosing, Susanne, Cremers, Frans

المصدر: Biomolecules. 14(3)

مصطلحات موضوعية: inherited, macula, maculopathies, penetrance, retinal, sequencing, Humans, Mutation, Penetrance, Pedigree, Macular Degeneration, Retina, Phenotype, ATP-Binding Cassette Transporters, Eye Proteins, Cadherin Related Proteins, Nerve Tissue Proteins

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/00w3d2bqTest

المؤلفون: Vella, Luca, Sternjakob, Anna, Lohse, Stefan, Fingerle, Alina, Sperling, Tanya, Wickenhauser, Claudia, Stöckle, Michael, Vogt, Thomas, Roemer, Klaus, Ołdak, Monika, Smola, Sigrun

مصطلحات موضوعية: ddc:610, HPV, E6, inflammation, CCL2, macrophage, p63, C/EBP, epidermodysplasia verruciformis

العلاقة: https://ndownloader.figstatic.com/collections/7108123/versions/1Test; http://nbn-resolving.org/urn:nbn:de:bsz:291--ds-421967Test; hdl:20.500.11880/37868; http://dx.doi.org/10.22028/D291-42196Test

الإتاحة: https://doi.org/10.22028/D291-4219610.3389/fcimb.2024.1336492Test
http://nbn-resolving.org/urn:nbn:de:bsz:291--ds-421967Test

المؤلفون: Jonard, Laurence, Brotto, Davide, Moreno-Pelayo, Miguel A., del Castillo, Ignacio, Kremer, Hannie, Pennings, Ronald, Caria, Helena, Fialho, Graça, Boudewyns, An, Van Camp, Guy, Ołdak, Monika, Oziębło, Dominika, Deggouj, Naïma, De Siati, Romolo Daniele, Gasparini, Paolo, Girotto, Giorgia, Verstreken, Margriet, Dossena, Silvia, Roesch, Sebastian, Battelino, Saba, Trebušak Podkrajšek, Katarina, Warnecke, Athanasia, Lenarz, Thomas, Lesinski-Schiedat, Anke, Mondain, Michel, Roux, Anne-Françoise, Denoyelle, Françoise, Loundon, Natalie, Serey Gaut, Margaux, Trevisi, Patrizia, Rubinato, Elisa, Martini, Alessandro, Marlin, Sandrine

المصدر: 2039-4330 ; Audiology Research

مصطلحات موضوعية: Human medicine

العلاقة: info:eu-repo/semantics/altIdentifier/isi/001021158500001

الإتاحة: https://doi.org/10.3390/AUDIOLRES13030029Test
https://hdl.handle.net/10067/1963750151162165141Test
https://repository.uantwerpen.be/docstore/d:irua:17447Test

المؤلفون: Matusiak, Monika, Oziębło, Dominika, Ołdak, Monika, Rejmak, Emilia, Kaczmarek, Leszek, Dobek, Dominik, Skarżyński, Henryk

المساهمون: Narodowe Centrum Nauki, Fundacja na rzecz Nauki Polskiej

المصدر: European Archives of Oto-Rhino-Laryngology ; volume 280, issue 10, page 4361-4369 ; ISSN 0937-4477 1434-4726

مصطلحات موضوعية: General Medicine, Otorhinolaryngology

الإتاحة: https://doi.org/10.1007/s00405-023-07924-yTest

المؤلفون: Hitti-Malin, Rebekkah J., Panneman, Daan M., Corradi, Zelia, Boonen, Erica G. M., Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard H. F., Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G. Jane, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek P., Matynia, Anna, Gorin, Michael B., Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel B., Li, Catherina H. Z., Klaver, Caroline C. W., Inglehearn, Chris F., Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo L., Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea L., Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan M., van den Born, L. Ingeborgh, McLaren, Terri L., De Roach, John N., Lamey, Tina M., Thompson, Jennifer A., Chen, Fred K., Tracewska, Anna M., Kamakari, Smaragda, Sallum, Juliana Maria Ferraz, Bolz, Hanno J., Kayserili, Hülya, Roosing, Susanne, Cremers, Frans P. M.

المساهمون: Hitti-Malin, Rebekkah J., Panneman, Daan M., Corradi, Zelia, Boonen, Erica G. M., Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard H. F., Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G. Jane, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek P., Matynia, Anna, Gorin, Michael B., Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel B., Li, Catherina H. Z., Klaver, Caroline C. W., Inglehearn, Chris F., Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo L., Fakin, Ana, Sajovic, Jana, Altalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea L., Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan M., van den Born, L. Ingeborgh, Mclaren, Terri L., De Roach, John N., Lamey, Tina M., Thompson, Jennifer A., Chen, Fred K., Tracewska, Anna M., Kamakari, Smaragda, Sallum, Juliana Maria Ferraz, Bolz, Hanno J., Kayserili, Hülya, Roosing, Susanne, Cremers, Frans P. M.

مصطلحات موضوعية: maculopathies, macula, retinal, inherited, sequencing, penetrance

العلاقة: volume:14; issue:3; journal:BIOMOLECULES; https://hdl.handle.net/11591/522988Test

الإتاحة: https://doi.org/10.3390/biom14030367Test
https://hdl.handle.net/11591/522988Test

المؤلفون: Cornelis, Stéphanie S., IntHout, Joanna, Runhart, Esmee H., Grunewald, Olivier, Lin, Siying, Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah J., Whelan, Laura, Farrar, G. Jane, Sharon, Dror, van den Born, L. Ingeborgh, Arno, Gavin, Simcoe, Mark, Michaelides, Michel, Webster, Andrew R., Roosing, Susanne, Mahroo, Omar A., Dhaenens, Claire-Marie, Cremers, Frans P. M., AlTalbishi, Ala'a, Ayuso, Carmen, Banfi, Sandro, Banin, Eyal, Ben-Yosef, Tamar, Bolz, Hanno J., Dockery, Adrian, Downes, Susan, Fakin, Ana, Gorin, Michael B., Heon, Elise, Hoyng, Carel B., Inglehearn, Chris F., Karali, Marianthi, Kämpjärvi, Kati, Klaver, Caroline C.W., Liskova, Petra, Oldak, Monika, Plomp, Astrid S., Sajovic, Jana, Stöhr, Heidi, Szaflik, Jacek P., Thiadens, Alberta A.H.J., Tracewska, Anna M., Vajter, Marie, Verheij, Joke B.G.M., Weber, Bernhard H.F.

المصدر: JAMA Ophthalmology ; ISSN 2168-6165

الإتاحة: https://doi.org/10.1001/jamaophthalmol.2024.0660Test
https://jamanetwork.com/journals/jamaophthalmology/articlepdf/2817278/jamaophthalmology_cornelis_2024_oi_240016_1712177057.74381.pdfTest

المؤلفون: Oziębło, Dominika, Lee, Sang‐Yeon, Leja, Marcin Ludwik, Sarosiak, Anna, Bałdyga, Natalia, Skarżyński, Henryk, Kim, Yehree, Han, Jin Hee, Yoo, Hyo Soon, Park, Min Hyun, Choi, Byung Yoon, Ołdak, Monika

المساهمون: Lee, Sang‐Yeon, Park, Min Hyun

العلاقة: Human Genetics, Vol.141 No.3-4, pp.445-453; https://hdl.handle.net/10371/183690Test; 000765690800001; 2-s2.0-85125734959; 160695

الإتاحة: https://hdl.handle.net/10371/183690Test

المؤلفون: Matusiak, Monika, Oziębło, Dominika, Ołdak, Monika, Rejmak, Emilia, Kaczmarek, Leszek, Skarżyński, Piotr Henryk, Skarżyński, Henryk

المساهمون: Narodowe Centrum Nauki

المصدر: Molecular Neurobiology ; volume 59, issue 4, page 2190-2203 ; ISSN 0893-7648 1559-1182

مصطلحات موضوعية: Neuroscience (miscellaneous), Cellular and Molecular Neuroscience, Neurology

الإتاحة: https://doi.org/10.1007/s12035-022-02732-7Test

المؤلفون: Oziębło, Dominika, Leja, Marcin L., Jeznach, Aldona, Orzechowska, Magdalena, Skirecki, Tomasz, Więsik-Szewczyk, Ewa, Furmanek, Mariusz, Bałdyga, Natalia, Skarżyński, Henryk, Ołdak, Monika

المصدر: Frontiers in Immunology ; volume 13 ; ISSN 1664-3224

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.3389/fimmu.2022.904632Test

المؤلفون: Skorczyk-Werner, Anna, Tońska, Katarzyna, Maciejczuk, Aleksandra, Nowomiejska, Katarzyna, Korwin, Magdalena, Ołdak, Monika, Wawrocka, Anna, Krawczyński, Maciej R.

المصدر: International Journal of Molecular Sciences; Dec2023, Vol. 24 Issue 24, p17496, 14p

مصطلحات موضوعية: GENETIC variation, RECESSIVE genes, RARE diseases, GENETIC disorders, MITOCHONDRIAL DNA, NEUROPATHY