학술논문
'학술논문'
에서 검색결과 60건 | 목록
1~10
Academic Journal
Malka, S.; Lin, S.; Michaelides, M.; Schiff, E.; Wright, G.; Webster, A.R.; Biswas, P.; Berry, A.-M.; Matsui, H.; Bhatia, A.; Ayyagari, R.; Sangermano, R.; Place, E.M.; Mehrotra, S.; Azhar Baig, H.M.; Pierce, E.A.; Bujakowska, K.M.; Ullah, M.; Kaminska, K.; Cancellieri, F.; D'Antonio, M.; Jestin, A.; Gardner, J.C.; Hardcastle, A.J.; Jiao, X.; Hejtmancik, J.F.; Quinodoz, M.; Rivolta, C.; Sullivan, L.; Mahroo, O.A.; Vaclavik, V.; Santos, C.; Rehman, A.U.; Iqbal, M.; Ansar, M.; Santos, L.C.; Sousa, A.B.; Tran, V.H.; Naeem, M.A.; Akram, S.J.; Akram, J.; Riazuddin, S.; Ayuso, C.; Riazuddin, S.A.; Frazer, K.A.; Arno, G.
In: American journal of human genetics . (American journal of human genetics, 5 September 2024, 111(9):2012-2030)
Academic Journal
Surl, D.; Lee, J.; Kim, M.; Han, J.; Won, D.; Lee, S.-T.; Shin, S.; Choi, J.R.; Lee, C.S.; Kim, S.S.; Byeon, S.H.; Lim, H.T.; Chung, S.A.; Song, W.K.; Sangermano, R.; Bujakowska, K.M.
In: JAMA Network Open . (JAMA Network Open, 31 May 2024, 7(5):E2414198)
Academic Journal
Sangermano, R.; Place, E.M.; Straubhaar, J.; Pierce, E.A.; Bujakowska, K.M.; Biswas, P.; Borooah, S.; Ayaggari, R.; Sullivan, L.S.; Daiger, S.P.
In: Cold Spring Harbor Molecular Case Studies . (Cold Spring Harbor Molecular Case Studies, December 2022, 8(7))
Academic Journal
Catomeris, A.J.; Ballios, B.G.; Sangermano, R.; Wagner, N.E.; Comander, J.I.; Pierce, E.A.; Place, E.M.; Bujakowska, K.M.; Huckfeldt, R.M.
In: Ophthalmic Genetics . (Ophthalmic Genetics, 2022, 43(3):332-339)
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Academic Journal
Sangermano, R.; Place, E.M.; Zampaglione, E.; Wagner, N.E.; Larson, A.; Pierce, E.A.; Huckfeldt, R.M.; Bujakowska, K.M.; Deitch, I.; Peter, V.G.; Quinodoz, M.; Rivolta, C.; Ba-Abbad, R.; Michaelides, M.; Webster, A.R.; Arno, G.; Fulton, A.B.; Coutinho-Santos, L.; Rosin, B.; AlTalbishi, A.; Banin, E.; Sharon, D.; Dunet, V.; Sousa, A.B.; Neves, M.; Ben-Yosef, T.
In: npj Genomic Medicine . (npj Genomic Medicine, December 2021, 6(1))
Academic Journal
Rosa, L.; Lepanto, M.S.; Sangermano, R.; Valenti, P.; Cutone, A.; Ianiro, G.; Musci, G.; Pernarella, S.; Ottolenghi, L.
In: Biochemistry and Cell Biology . (Biochemistry and Cell Biology, 2021, 99(1):81-90)
Academic Journal
Bronstein, R.; Mehrotra, S.; Navarro-Gomez, D.; Maher, M.; Place, E.; Sangermano, R.; Bujakowska, K.M.; Pierce, E.A.; Capowski, E.E.; Jansen, A.D.; Gamm, D.M.
In: Human Molecular Genetics . (Human Molecular Genetics, 15 April 2020, 29(6):967-980)
Academic Journal
Khan, M.; Cornelis, S.S.; Sangermano, R.; Post, I.J.M.; Groesbeek, A.J.; Amsu, J.; Gilissen, C.; Garanto, A.; Collin, R.W.J.; Cremers, F.P.M.
In: International Journal of Molecular Sciences . (International Journal of Molecular Sciences, 1 April 2020, 21(7))
Academic Journal
Runhart, E.H.; Valkenburg, D.; Cornelis, S.S.; Khan, M.; Albert, S.; Bax, N.M.; Gilissen, C.; Cremers, F.P.M.; Hoyng, C.B.; Sangermano, R.; Astuti, G.D.N.; Blokland, E.A.W.; Pott, J.-W.R.; Verheij, J.B.G.M.; Ingeborgh van den Born, L.
In: Investigative Ophthalmology and Visual Science . (Investigative Ophthalmology and Visual Science, 1 October 2019, 60(13):4249-4256)
Academic Journal
Bauwens, M.; Naessens, S.; Van Cauwenbergh, C.; Rosseel, T.; De Leeneer, K.; De Jaegere, S.; Van Laethem, T.; Leroy, B.P.; De Baere, E.; Garanto, A.; Sangermano, R.; Khan, M.; Collin, R.W.J.; Cremers, F.P.M.; Weisschuh, N.; Sadler, F.; Kohl, S.; Wissinger, B.; De Zaeytijd, J.; Balikova, I.; Bauwens, J.; De Vries, M.; Carss, K.; Arno, G.; Fakin, A.; Webster, A.R.; de Ravel de l’Argentière, T.J.L.; Sznajer, Y.; Vuylsteke, M.; Cherry, T.
In: Genetics in Medicine . (Genetics in Medicine, 1 August 2019, 21(8):1761-1771)
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[AR] Sangermano, R.
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