Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Fabiana Motta"'
Autor:
Malena Daich Varela, James Bellingham, Fabiana Motta, Neringa Jurkute, Jamie M Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz-Kriegl, Karolina Kaminska, Francesca Cancellieri, Hendrik P N Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E Cheetham, Michel Michaelides, Omar A Mahroo, Anthony T Moore, Andrew R Webster, Gavin Arno
Publikováno v:
Human molecular genetics, vol 32, iss 4
The purpose of this paper is to identify likely pathogenic non-coding variants in inherited retinal dystrophy (IRD) genes, using genome sequencing (GS). Patients with IRD were recruited to the study and underwent comprehensive ophthalmological evalua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eecf9b5f20e38556985a642ed4fc37b
https://escholarship.org/uc/item/4z14k3r2
https://escholarship.org/uc/item/4z14k3r2
Autor:
Nikolas Pontikos, William Woof, Advaith Veturi, Behnam Javanmardi, Miguel Ibarra-Arellano, Alexander Hustinx, Ismail Moghul, Yichen Liu, Kristina Heß, Michalis Georgiou, Maximilian Pfau, Mital Shah, Jing Yu, Saoud Al-Khuzaei, Siegfried Wagner, Malena Daich Varela, Thales Cabral de Guimarães, Sagnik Sen, Nathaniel Kabiri, Quang Nguyen, Jennifer Furman, Bart Liefers, Aaron Lee, Samantha De Silva, Caio Texeira, Fabiana Motta, Yu Fujinami-Yokokawa, Gavin Arno, Kaoru Fujinami, Juliana Sallum, Savita Madhusudhan, Susan Downes, Frank Holz, Konstantinos Balaskas, Andrew Webster, Omar Mahroo, Peter Krawitz, Michel Michaelides
Rare eye diseases such as inherited retinal diseases (IRDs) are challenging to diagnose genetically. IRDs are typically monogenic disorders and represent a leading cause of blindness in children and working-age adults worldwide. A growing number are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::984dbc3b763aed3cdc1f03becb82400b
https://doi.org/10.21203/rs.3.rs-2110140/v1
https://doi.org/10.21203/rs.3.rs-2110140/v1
Autor:
Patricia María Fabiana, Motta, Norma, Cech, Claudia, Fontan, Manuel Fernando, Giménez, Norma, Lodeiro, Karina, Marinic, María Laura, Molinari, María Graciela, Sotelo, Alicia, Habegger de Sorrentino
Publikováno v:
Enfermedades infecciosas y microbiologia clinica. 25(10)
Segregation analyses in several populations have suggested a relationship between specific human leukocyte antigen (HLA) class II alleles and the development of different types of leprosy. The aim of this study was to determine the frequency of HLA c
Autor:
Habegger de Sorrentino, Alicia, Young, Marcela, Marinic, Karina, Fabiana Motta, Patricia, Baruzzo, Carlos
Publikováno v:
Reumatología Clínica; nov/dec2013, Vol. 9 Issue 6, p365-368, 4p
Akademický článek
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Publikováno v:
Journal of Fluorescence; May2009, Vol. 19 Issue 3, p495-500, 6p
Autor:
Salles, M. V., Fabiana Motta, Martin, R., Filippelli-Silva, R., Da Silva, E. D., Varela, P., Costa, K. A., Chiang, J. P., Pesquero, J. B., Sallum, J. -M F.
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::97dad2217d2dd94ab196158af2b8de29
http://www.scopus.com/inward/record.url?eid=2-s2.0-85051683548&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-85051683548&partnerID=MN8TOARS