المؤلفون: Dollfus, Hélène, Lilien, Marc R., Maffei, Pietro, Verloes, Alain, Muller, Jean, Bacci, Giacomo M., Cetiner, Metin, van den Akker, Erica L. T., Grudzinska Pechhacker, Monika, Testa, Francesco, Lacombe, Didier, Stokman, Marijn F., Simonelli, Francesca, Gouronc, Aurélie, Gavard, Amélie, van Haelst, Mieke M., Koenig, Jens, Rossignol, Sylvie, Bergmann, Carsten, Zacchia, Miriam, Leroy, Bart P., Mosbah, Héléna, Van Eerde, Albertien M., Mekahli, Djalila, Servais, Aude, Poitou, Christine, Valverde, Diana

المساهمون: Dollfus, Hélène, Lilien, Marc R., Maffei, Pietro, Verloes, Alain, Muller, Jean, Bacci, Giacomo M., Cetiner, Metin, van den Akker, Erica L. T., Grudzinska Pechhacker, Monika, Testa, Francesco, Lacombe, Didier, Stokman, Marijn F., Simonelli, Francesca, Gouronc, Aurélie, Gavard, Amélie, van Haelst, Mieke M., Koenig, Jen, Rossignol, Sylvie, Bergmann, Carsten, Zacchia, Miriam, Leroy, Bart P., Mosbah, Héléna, Van Eerde, Albertien M., Mekahli, Djalila, Servais, Aude, Poitou, Christine, Valverde, Diana

Relation: info:eu-repo/semantics/altIdentifier/pmid/39085583; info:eu-repo/semantics/altIdentifier/wos/WOS:001281335300001; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11577/3536684

الاتاحة: https://hdl.handle.net/11577/3536684
https://doi.org/10.1038/s41431-024-01634-7

المؤلفون: Marziali, Elisa, van den Broeck, Filip, Bargiacchi, Sara, Fortunato, Pina, Caputo, Roberto, Sodi, Andrea, de Zaeytijd, Julie, Murro, Vittoria, Mucciolo, Dario, Pasquale, Giorgio, Dario, Passerini, Ilaria, Palazzo, Viviana, Francesca, Peluso, de Baere, Elfride, Zeitz, Christina, Leroy, Bart, P, Secci, Jacopo, Bacci, Giacomo, M

المساهمون: Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 1381-6810.

مصطلحات موضوعية: CACNA1F gene optic neuropathy congenital stationary night blindness myopia ganglion cell loss, CACNA1F gene, optic neuropathy, congenital stationary night blindness, myopia, ganglion cell loss, [SDV]Life Sciences [q-bio]

Relation: hal-03965321; https://cnrs.hal.science/hal-03965321; https://cnrs.hal.science/hal-03965321/document; https://cnrs.hal.science/hal-03965321/file/CACNA1Foptic%20HAL.pdf

الاتاحة: https://cnrs.hal.science/hal-03965321
https://cnrs.hal.science/hal-03965321/document
https://cnrs.hal.science/hal-03965321/file/CACNA1Foptic%20HAL.pdf
https://doi.org/10.1080/13816810.2022.2132514

المؤلفون: Giordano, Flavio, Peri, Giacomo, Bacci, Giacomo M, Basile, Massimo, Guerra, Azzurra, Bergonzini, Patrizia, Buccoliero, Anna Maria, Spacca, Barbara, IUGHETTI, Lorenzo, Donati, Pierarturo, Genitori, Lorenzo

المساهمون: Giordano, Flavio, Peri, Giacomo, Bacci, Giacomo M, Basile, Massimo, Guerra, Azzurra, Bergonzini, Patrizia, Buccoliero, Anna Maria, Spacca, Barbara, Iughetti, Lorenzo, Donati, Pierarturo, Genitori, Lorenzo

مصطلحات موضوعية: CS = cavernous sinu, DC = dermoid cyst, DWI = diffusion-weighted imaging, ICA = internal carotid artery, dermoid cyst, interdural cavernous sinus tumor, oncology, ophthalmoplegia, pterional approach, skull base surgery

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/27935468; info:eu-repo/semantics/altIdentifier/wos/WOS:000394925800013; volume:19; issue:3; firstpage:354; lastpage:360; numberofpages:7; journal:JOURNAL OF NEUROSURGERY. PEDIATRICS; http://hdl.handle.net/11380/1128051; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85015594514

الاتاحة: http://hdl.handle.net/11380/1128051
https://doi.org/10.3171/2016.9.PEDS1650

المؤلفون: Aleman, Tomas S., Amati-Bonneau, Patrizia, Arveiler, Benoît, Ashworth, Jane L., Audo, Isabelle, Bacci, Giacomo M., Balducci, Nicole, Balikova, Irina, Bauwens, Miriam, Barboni, Piero, Birtel, Johannes, Biswas, Susmito, Black, Graeme C.M., Blanchet, Catherine, Bocquet, Béatrice, Boon, Camiel J.F., Brézin, Antoine, Roziers, Cyril Burin des, Burkitt-Wright, Emma, Callea, Michele, Carbonelli, Michele, Carelli, Valerio, Cehajic-Kapetanovic, Jasmina, Chandler, Kate E., Chandra, Aman, Clayton-Smith, Jill, Colijn, Johanna M., Coppieters, Frauke, A. Cukras, Catherine, Daly, Avril, De Baere, Elfride, De Zaeytijd, Julie, Borman, Arundhati Dev, Dollfus, Hélène, Houge, Sofia Douzgou, Engle, Elizabeth C., Escher, Pascal, Evans, D. Gareth, Fahnehjelm, Kristina Teär, Fasser, Christina, Fiore, Mathieu, Fujinami, Kaoru, Fujinami-Yokokawa, Yu, Gallie, Brenda L., Georgiou, Michalis, Gliem, Martin, Grudzinska Pechhacker, Monika K., Hall, Georgina, Harmening, Wolf M., Henderson, Robert H.

المصدر: Clinical Ophthalmic Genetics and Genomics ; page xi-xiv

الاتاحة: http://dx.doi.org/10.1016/b978-0-12-813944-8.09991-1
https://api.elsevier.com/content/article/PII:B9780128139448099911?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B9780128139448099911?httpAccept=text/plain

المؤلفون: Bacci, Giacomo M., Donati, Maria A., Pasquini, Elisabetta, Munier, Francis, Cavicchi, Catia, Morrone, Amelia, Sodi, Andrea, Murro, Vittoria, Garcia Segarra, Nuria, Defilippi, Claudio, Bussolin, Leonardo, Caputo, Roberto

المصدر: Acta Ophthalmologica ; volume 95, issue 8 ; ISSN 1755-375X 1755-3768

الاتاحة: http://dx.doi.org/10.1111/aos.13441
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Faos.13441
https://onlinelibrary.wiley.com/doi/pdf/10.1111/aos.13441

المؤلفون: Schuart, Claudia, Bassi, Andrea, Kapp, Friedrich G., Wieland, Ilse, Pagliazzi, Angelica, Losch, Heike, Mazzatenta, Carlo, Bacci, Giacomo M., Oranges, Teresa, Schanze, Denny, Mohnike, Klaus, Nanda, Arti, Fischer, Judith, Zenker, Martin, Happle, Rudolf

المصدر: European journal of medical genetics. - 65, 5 (2022) , 104472, ISSN: 1769-7212

Relation: https://freidok.uni-freiburg.de/data/226825

الاتاحة: https://freidok.uni-freiburg.de/data/226825
https://doi.org/10.1016/j.ejmg.2022.104472

المؤلفون: Marziali, Elisa, Van Den Broeck, Filip, Bargiacchi, Sara, Fortunato, Pina, Caputo, Roberto, Sodi, Andrea, De Zaeytijd, Julie, Murro, Vittoria, Mucciolo, Dario Pasquale, Giorgio, Dario, Passerini, Ilaria, Palazzo, Viviana, Peluso, Francesca, de Baere, Elfride, Zeitz, Christina, Leroy, Bart P., Secci, Jacopo, Bacci, Giacomo M.

المصدر: Ophthalmic Genetics; Apr2023, Vol. 44 Issue 2, p152-162, 11p

مصطلحات موضوعية: OPTIC nerve, PERIMETRY, RETINAL diseases, OPTIC nerve diseases, OPTICAL coherence tomography, REFRACTIVE errors, ARACHNOID cysts

المؤلفون: Caputo, Roberto, Marziali, Elisa, de Libero, Cinzia, Di Grande, Laura, Danti, Gioia, Virgili, Gianni, Villani, Edoardo, Mori, Francesca, Bacci, Giacomo M., Lucenteforte, Ersilia, Pucci, Neri

المصدر: Cornea ; volume 40, issue 11, page 1395-1401 ; ISSN 0277-3740

الاتاحة: http://dx.doi.org/10.1097/ico.0000000000002751
https://journals.lww.com/10.1097/ICO.0000000000002751

المؤلفون: Bacci, Giacomo M., Polizzi, Silvio, Mari, Francesco, Conti, Valerio, Caputo, Roberto, Guerrini, Renzo

المصدر: Journal of Neuro-Ophthalmology ; volume 41, issue 3, page e363-e365 ; ISSN 1070-8022

الاتاحة: http://dx.doi.org/10.1097/wno.0000000000001099
https://journals.lww.com/10.1097/WNO.0000000000001099

المؤلفون: Bacci, Giacomo M., Polizzi, Silvio, Mari, Francesco, Conti, Valerio, Caputo, Roberto, Guerrini, Renzo

المصدر: Journal of Neuro-Ophthalmology; Sep2021, Vol. 41 Issue 3, pe363-e365, 3p

المؤلفون: Uner, Ogul E.¹ (AUTHOR), Elsharawi, Radwa¹ (AUTHOR), Reynolds, Margaret² (AUTHOR), Bacci, Giacomo M.³ (AUTHOR), Bargiacchi, Sara³ (AUTHOR), Birch, David G.⁴ (AUTHOR), Chen, Fred K.^5,6 (AUTHOR), Jain, Nieraj⁷ (AUTHOR), Heath Jeffery, Rachael C.^5,6 (AUTHOR), Lamey, Tina M.⁸ (AUTHOR), Mustafi, Debarshi⁹ (AUTHOR), da Palma, Mariana Matioli¹⁰ (AUTHOR), Sallum, Juliana Maria Ferraz¹⁰ (AUTHOR), Torres Soto, Mariam⁷ (AUTHOR), Jones, Kaylie⁴ (AUTHOR), Yang, Paul¹ (AUTHOR), Pennesi, Mark E.^1,4 (AUTHOR), Everett, Lesley A.¹ (AUTHOR) everettl@ohsu.edu

المصدر: Ophthalmic Genetics. Jan2025, p1-11. 11p. 7 Illustrations.

مصطلحات موضوعية: *RETINAL degeneration, *AGE of onset, *RETINAL diseases, *SENSORINEURAL hearing loss, *HEARING disorders, *DYSTROPHY