Search Results - Tanaka, Akemi J.

Mononuclear muscle cells in Drosophila ovaries revealed by GFP protein traps by Hudson, Andrew M., Petrella, Lisa N., Tanaka, Akemi J., Cooley, Lynn

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Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65 by Jauregui, Ruben, Cho, Ahra, Oh, Jin Kyun, Tanaka, Akemi J., Sparrow, Janet R., Tsang, Stephen H.

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Letter to the Journal: Quasidominance in autosomal recessive RDH12-Leber congenital amaurosis by Jauregui, Ruben, Cho, Ahra, Xu, Christine L., Tanaka, Akemi J., Sparrow, Janet R., Tsang, Stephen H.

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A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder by Tanaka, Akemi J., Okumoto, Kanji, Tamura, Shigehiko, Abe, Yuichi, Hirsch, Yoel, Deng, Liyong, Ekstein, Joseph, Chung, Wendy K., Fujiki, Yukio

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Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis by Ragi, Sara D., Lima de Carvalho, Jose Ronaldo, Tanaka, Akemi J., Park, Karen Sophia, Mahajan, Vinit B., Maumenee, Irene H., Tsang, Stephen H.

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Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results by Cho, Ahra, Lima de Carvalho, Jose Ronaldo, Tanaka, Akemi J., Jauregui, Ruben, Levi, Sarah R., Bassuk, Alexander G., Mahajan, Vinit B., Tsang, Stephen H.

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Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa by Lin, Yuchen, Xu, Christine L., Velez, Gabriel, Yang, Jing, Tanaka, Akemi J., Breazzano, Mark P., Mahajan, Vinit B., Sparrow, Janet R., Tsang, Stephen H.

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Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa by Lin, Yuchen, Xu, Christine L., Breazzano, Mark P., Tanaka, Akemi J., Ryu, Joseph, Levi, Sarah R., Yao, Ke, Sparrow, Janet R., Tsang, Stephen H.

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Spectrum of Disease Severity and Phenotype in Choroideremia Carriers by Jauregui, Ruben, Park, Karen Sophia, Tanaka, Akemi J., Cho, Ahra, Paavo, Maarjaliis, Zernant, Jana, Francis, Jasmine H., Allikmets, Rando, Sparrow, Janet R., Tsang, Stephen H.

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De novo mutations in PURA are associated with hypotonia and developmental delay by Tanaka, Akemi J., Bai, Renkui, Cho, Megan T., Anyane-Yeboa, Kwame, Ahimaz, Priyanka, Wilson, Ashley L., Kendall, Fran, Hay, Beverly, Moss, Timothy, Nardini, Monica, Bauer, Mislen, Retterer, Kyle, Juusola, Jane, Chung, Wendy K.

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De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features by Tanaka, Akemi J., Cho, Megan T., Retterer, Kyle, Jones, Julie R., Nowak, Catherine, Douglas, Jessica, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Schaefer, G. Bradley, Kaylor, Julie, Rahman, Omar A., Telegrafi, Aida, Friedman, Bethany, Douglas, Ganka, Monaghan, Kristin G., Chung, Wendy K.

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De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism by Tanaka, Akemi J., Cho, Megan T., Willaert, Rebecca, Retterer, Kyle, Zarate, Yuri A., Bosanko, Katie, Stefans, Vikki, Oishi, Kimihiko, Williamson, Amy, Wilson, Golder N., Basinger, Alice, Barbaro-Dieber, Tina, Ortega, Lucia, Sorrentino, Susanna, Gabriel, Melissa K., Anderson, Ilse J., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Chung, Wendy K.

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Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss by Tanaka, Akemi J., Cho, Megan T., Millan, Francisca, Juusola, Jane, Retterer, Kyle, Joshi, Charuta, Niyazov, Dmitriy, Garnica, Adolfo, Gratz, Edward, Deardorff, Matthew, Wilkins, Alisha, Ortiz-Gonzalez, Xilma, Mathews, Katherine, Panzer, Karin, Brilstra, Eva, van Gassen, Koen L.I., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Sobreira, Nara, Hamosh, Ada, McKnight, Dianalee, Monaghan, Kristin G., Chung, Wendy K.

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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy by Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., Reymond, Alexandre

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