OR11-002 - Mutations in MVK cause non-syndromic RP von Siemiatkowska, AM, Stoffels, M, Neveling, K, Simon, A, van Hagen, PM, den Hollander, AI, Cremers, FP, van den Born, LI, Collin, RW

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Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration von Yang, Zhenglin, Alvarez, Bernardo V., Chakarova, Christina, Jiang, Li, Karan, Goutam, Frederick, Jeanne M., Zhao, Yu, Sauvé, Yves, Li, Xi, Zrenner, Eberhart, Wissinger, Bernd, Hollander, Anneke I. Den, Katz, Bradley, Baehr, Wolfgang, Cremers, Frans P., Casey, Joseph R., Bhattacharya, Shomi S., Zhang, Kang

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Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4 von Yvette J. M. de Kok, van der Maarel, Silvère M., Bitner-Glindzicz, Maria, Huber, Irene, Monaco, Anthony P., Malcolm, Susan, Pembrey, Marcus E., Ropers, Hans-Hilger, Frans P. M. Cremers

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Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1 von Arno, G, Hull, S, Carss, K, Dev-Borman, A, Chakarova, C, Bujakowska, K, van den Born, I, Robson, AG, Holder, GE, Michaelides, M, Cremers, FP, Pierce, E, Raymond, FL, Moore, AT, Webster, AR

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A separation theorem for entire transcendental maps von Benini, Anna Miriam, Fagella, Núria

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Combined remote mineralogical and elemental identification from rovers: Field and laboratory tests using reflectance and laser-induced breakdown spectroscopy von Wiens, Roger C., Arvidson, Raymond E., Cremers, David A., Ferris, Monty J., Blacic, James D., Seelos IV, Frank P., Deal, Kim S.

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A separation theorem for entire transcendental maps von Benini, Anna Miriam, Fagella Rabionet, Núria

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Children's exhaustive readings of questions von Cremers, Alexandre, Tieu, Lyn, Chemla, Emmanuel

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Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations von Cremers, Frans P.M., Lee, Winston, Collin, Rob W.J., Allikmets, Rando

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Source-Based Morphometry Multivariate Approach to Analyze [123I]FP-CIT SPECT Imaging von Premi, Enrico, Calhoun, V. D., Garibotto, V., Turrone, R., Alberici, A., Cottini, E., Pilotto, A., Gazzina, S., Magoni, M., Paghera, B., Borroni, B., Padovani, A.

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The solar Julia sets of basic quadratic Cremer polynomialsr von BLOKH, A, BUFF, X, CHÉRITAT, A, OVERSTEEGEN, L

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Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis von Weisschuh, Nicole, Feldhaus, Britta, Khan, Muhammad Imran, Cremers, Frans P M, Kohl, Susanne, Wissinger, Bernd, Zobor, Ditta

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FP(μ‐N)2S: A Sulfur‐Pnictogen Four‐Membered Ring with 6π Electrons von Zhu, Bifeng, Song, Yanlin, Zhu, Jun, Rauhut, Guntram, Jiang, Junjie, Zeng, Xiaoqing

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Benchmarking deep learning splice prediction tools using functional splice assays von Riepe, Tabea V., Khan, Mubeen, Roosing, Susanne, Cremers, Frans P. M., 't Hoen, Peter A. C.

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Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies von den Hollander, Anneke I, Black, Aaron, Bennett, Jean, Cremers, Frans P M

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Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function von Kaltak, Melita, Blanco-Garavito, Rocio, Molday, Laurie L, Dhaenens, Claire-Marie, Souied, Eric E, Platenburg, Gerard, Swildens, Jim, Molday, Robert S, Cremers, Frans P. M

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In Silico Functional Meta‐Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases von Cornelis, Stéphanie S., Bax, Nathalie M., Zernant, Jana, Allikmets, Rando, Fritsche, Lars G., den Dunnen, Johan T., Ajmal, Muhammad, Hoyng, Carel B., Cremers, Frans P.M.

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Pharmacology of bisphosphonates von Cremers, Serge, Drake, Matthew T., Ebetino, F. Hal, Bilezikian, John P., Russell, R. Graham G.

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Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding von Collin, Rob W.J, Chellappa, Ramesh, Pauw, Robert-Jan, Vriend, Gert, Oostrik, Jaap, van Drunen, Wendy, Huygen, Patrick L, Admiraal, Ronald, Hoefsloot, Lies H, Cremers, Frans P.M, Xiang, Mengqing, Cremers, Cor W.R.J, Kremer, Hannie

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Characterization of [123I]FP-CIT binding to the dopamine transporter in the striatum of tree shrews by quantitative in vitro autoradiography von Geisler, Stefanie, Beindorff, Nicola, Cremer, Markus, Hoffmann, Kerstin, Brenner, Winfried, Cumming, Paul, Meyer, Philipp T., Langen, Karl-Josef, Fuchs, Eberhard, Buchert, Ralph

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