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: De Falco, Alessandro, Karali, Marianthi, Criscuolo, Chiara, Testa, Francesco, Barillari, Maria Rosaria, Scarpato, Margherita, Gaudieri, Valeria, Cuocolo, Alberto, Russo, Anna, Nigro, Vincenzo, Simonelli, Francesca, Banfi, Sandro, Brunetti-Pierri, Nicola

المساهمون: De Falco, Alessandro, Karali, Marianthi, Criscuolo, Chiara, Testa, Francesco, Barillari, Maria Rosaria, Scarpato, Margherita, Gaudieri, Valeria, Cuocolo, Alberto, Russo, Anna, Nigro, Vincenzo, Simonelli, Francesca, Banfi, Sandro, Brunetti-Pierri, Nicola

مصطلحات موضوعية: SGSH, Usher syndrome, mucopolysaccharidosis type IIIA, pericentral retinitis pigmentosa, reverse phenotyping

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:001131929600001; volume:194A; issue:e63517; firstpage:1; lastpage:6; numberofpages:6; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11588/948661Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180824056

الإتاحة: https://doi.org/10.1002/ajmg.a.63517Test
https://hdl.handle.net/11588/948661Test

المؤلفون: Testa, Francesco, Carreño, Ester, van den Born, L. Ingeborgh, Melillo, Paolo, Perea-Romero, Irene, Di Iorio, Valentina, Risca, Giulia, Iodice, Clemente Maria, Pennings, Ronald J. E., Karali, Marianthi, Banfi, Sandro, Auricchio, Alberto, Galimberti, Stefania, Ayuso, Carmen, Simonelli, Francesca

المساهمون: Testa, F, Carreño, E, van den Born, L, Melillo, P, Perea-Romero, I, Di Iorio, V, Risca, G, Iodice, C, Pennings, R, Karali, M, Banfi, S, Auricchio, A, Galimberti, S, Ayuso, C, Simonelli, F

مصطلحات موضوعية: Usher syndrome, MYO7A, natural history study, retinitis pigmentosa

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38884554; volume:65; issue:6; firstpage:1; lastpage:10; numberofpages:10; journal:INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; https://hdl.handle.net/10281/486781Test

الإتاحة: https://doi.org/10.1167/iovs.65.6.25Test
https://hdl.handle.net/10281/486781Test

المؤلفون: Melillo, Paolo, Testa, Francesco, Di Iorio, Valentina, Karali, Marianthi, Citro, Amelia, Della Corte, Michele, Rossi, Settimio, Banfi, Sandro, Simonelli, Francesca

المصدر: Ophthalmology Retina ; ISSN 2468-6530

مصطلحات موضوعية: Ophthalmology

الإتاحة: https://doi.org/10.1016/j.oret.2024.01.021Test
https://api.elsevier.com/content/article/PII:S2468653024000472?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468653024000472?httpAccept=text/plainTest

المؤلفون: Panneman, Daan M., Hitti-Malin, Rebekkah J., Holtes, Lara K., de Bruijn, Suzanne E., Reurink, Janine, Boonen, Erica G.M., Khan, Muhammad Imran, Ali, Manir, Andréasson, Sten, De Baere, Elfride, Banfi, Sandro, Bauwens, Miriam, Ben-Yosef, Tamar, Bocquet, Béatrice, De Bruyne, Marieke, Cerda, Berta de la, Coppieters, Frauke, Farinelli, Pietro, Guignard, Thomas, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, de Koning, Bart, Leroy, Bart P., McKibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantinos, Nishiguchi, Koji M., Poulter, James A., Rivolta, Carlo, Rodríguez de la Rúa, Enrique, Saunders, Patrick, Simonelli, Francesca, Tatour, Yasmin, Testa, Francesco, Thiadens, Alberta A.H.J., Toomes, Carmel, Tracewska, Anna M., Tran, Hoai Viet, Ushida, Hiroaki, Vaclavik, Veronika, Verhoeven, Virginie J.M., van de Vorst, Maartje, Gilissen, Christian, Hoischen, Alexander, Cremers, Frans P.M., Roosing, Susanne

المصدر: Frontiers in Cell and Developmental Biology. 11

مصطلحات موضوعية: cost-effective, high-throughput, inherited retinal diseases, smMIPs, targeted gene sequencing, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

الوصول الحر: https://lup.lub.lu.se/record/1e2c7301-6eec-43e1-8240-1d6d7c81d55cTest
http://dx.doi.org/10.3389/fcell.2023.1112270Test

المؤلفون: De Falco, Alessandro, Karali, Marianthi, Criscuolo, Chiara, Testa, Francesco, Barillari, Maria Rosaria, Scarpato, Margherita, Gaudieri, Valeria, Cuocolo, Alberto, Russo, Anna, Nigro, Vincenzo, Simonelli, Francesca, Banfi, Sandro, Brunetti‐Pierri, Nicola

المصدر: American Journal of Medical Genetics Part A ; volume 194, issue 5 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.63517Test

المؤلفون: Corradi, Zelia, Dhaenens, Claire-Marie, Grunewald, Olivier, Kocabaş, Ipek Selen, Meunier, Isabelle, Banfi, Sandro, Karali, Marianthi, Cremers, Frans P. M., Hitti-Malin, Rebekkah J.

المصدر: International Journal of Molecular Sciences; Jun2024, Vol. 25 Issue 11, p5940, 14p

مصطلحات موضوعية: DNA copy number variations, MOLECULAR probes, IDENTIFICATION, RETINAL diseases, GENETIC disorders, GENETIC disorder diagnosis, RECURRENT neural networks

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: Melillo, Paolo, Testa, Francesco, Di Iorio, Valentina, Karali, Marianthi, Citro, Amelia, Della Corte, Michele, Rossi, Settimio, Banfi, Sandro, Simonelli, Francesca

المساهمون: Melillo, Paolo, Testa, Francesco, Di Iorio, Valentina, Karali, Marianthi, Citro, Amelia, Della Corte, Michele, Rossi, Settimio, Banfi, Sandro, Simonelli, Francesca

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38295874; journal:OPHTHALMOLOGY RETINA; https://hdl.handle.net/11591/518991Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85187565320

الإتاحة: https://doi.org/10.1016/j.oret.2024.01.021Test
https://hdl.handle.net/11591/518991Test

المؤلفون: Karali, Marianthi, Testa, Francesco, Di Iorio, Valentina, Torella, Annalaura, Zeuli, Roberta, Scarpato, Margherita, Romano, Francesca, Onore, Maria Elena, Pizzo, Mariateresa, Melillo, Paolo, Brunetti-Pierri, Raffaella, Passerini, Ilaria, Pelo, Elisabetta, Cremers, Frans P M, Esposito, Gabriella, Nigro, Vincenzo, Simonelli, Francesca, Banfi, Sandro

المساهمون: Karali, Marianthi, Testa, Francesco, Di Iorio, Valentina, Torella, Annalaura, Zeuli, Roberta, Scarpato, Margherita, Romano, Francesca, Onore, Maria Elena, Pizzo, Mariateresa, Melillo, Paolo, Brunetti-Pierri, Raffaella, Passerini, Ilaria, Pelo, Elisabetta, Cremers, Frans P M, Esposito, Gabriella, Nigro, Vincenzo, Simonelli, Francesca, Banfi, Sandro

مصطلحات موضوعية: epidemiological study, inherited retinal diseases, molecular diagnosis, genotypes, molecular therapies

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000932261400018; volume:12; issue:1; firstpage:20815; numberofpages:15; journal:SCIENTIFIC REPORTS; https://hdl.handle.net/11588/905855Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85143144953; https://www.nature.com/articles/s41598-022-24636-1.pdfTest

الإتاحة: https://doi.org/10.1038/s41598-022-24636-1Test
https://hdl.handle.net/11588/905855Test
https://www.nature.com/articles/s41598-022-24636-1.pdfTest