Sökresultat - Chung, Hyung-lok

Schip1, a new upstream regulator of Hippo signaling av Chung, Hyung-Lok, Choi, Kwang-Wook

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Phosphatidylserine synthase plays an essential role in glia and affects development, as well as the maintenance of neuronal function av Park, Ye-Jin, Kim, Sungkyung, Shim, Hyeon-Pyo, Park, Jae H., Lee, Gyunghee, Kim, Tae-Yeop, Jo, Min-Cue, Kwon, Ah-Young, Lee, Mihwa, Lee, Seongjae, Yeo, Jiwon, Chung, Hyung-Lok, Bellen, Hugo J., Kwon, Seung-Hae, Jeon, Sang-Hak

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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies av Manivannan, Sathiya N, Roovers, Jolien, Smal, Noor, Myers, Candace T, Turkdogan, Dilsad, Roelens, Filip, Kanca, Oguz, Chung, Hyung-Lok, Scholz, Tasja, Hermann, Katharina, Bierhals, Tatjana, Caglayan, Hande S, Stamberger, Hannah, Mefford, Heather, de Jonghe, Peter, Yamamoto, Shinya, Weckhuysen, Sarah, Bellen, Hugo J

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De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy av Chung, Hyung-lok, Mao, Xiao, Wang, Hua, Park, Ye-Jin, Marcogliese, Paul C., Rosenfeld, Jill A., Burrage, Lindsay C., Liu, Pengfei, Murdock, David R., Yamamoto, Shinya, Wangler, Michael F., Chao, Hsiao-Tuan, Long, Hongyu, Feng, Li, Bacino, Carlos A., Bellen, Hugo J., Xiao, Bo

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Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures av Lu, Shenzhao, Hernan, Rebecca, Marcogliese, Paul C., Huang, Yan, Gertler, Tracy S., Akcaboy, Meltem, Liu, Shiyong, Chung, Hyung-lok, Pan, Xueyang, Sun, Xiaoqin, Oguz, Melahat Melek, Oztoprak, Ulkühan, de Baaij, Jeroen H.F., Ivanisevic, Jelena, McGinnis, Erin, Guillen Sacoto, Maria J., Chung, Wendy K., Bellen, Hugo J.

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Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts av Ansar, Muhammad, Chung, Hyung-lok, Taylor, Rachel L., Nazir, Aamir, Imtiaz, Samina, Sarwar, Muhammad T., Manousopoulou, Alkistis, Makrythanasis, Periklis, Saeed, Sondas, Falconnet, Emilie, Guipponi, Michel, Pournaras, Constantin J., Ansari, Maqsood A., Ranza, Emmanuelle, Santoni, Federico A., Ahmed, Jawad, Shah, Inayat, Gul, Khitab, Black, Graeme CM., Bellen, Hugo J., Antonarakis, Stylianos E.

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Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature av Ansar, Muhammad, Chung, Hyung-lok, Al-Otaibi, Ali, Elagabani, Mohammad Nael, Ravenscroft, Thomas A., Paracha, Sohail A., Scholz, Ralf, Abdel Magid, Tayseer, Sarwar, Muhammad T., Shah, Sayyed Fahim, Qaisar, Azhar Ali, Makrythanasis, Periklis, Marcogliese, Paul C., Kamsteeg, Erik-Jan, Falconnet, Emilie, Ranza, Emmanuelle, Santoni, Federico A., Aldhalaan, Hesham, Al-Asmari, Ali, Faqeih, Eissa Ali, Ahmed, Jawad, Kornau, Hans-Christian, Bellen, Hugo J., Antonarakis, Stylianos E.

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Loss or gain of function mutations in ACOX1 cause axonal loss via different mechanisms av Chung, Hyung-lok, Wangler, Michael F., Marcogliese, Paul C., Jo, Juyeon, Ravenscroft, Thomas A., Zuo, Zhongyuan, Duraine, Lita, Sadeghzadeh, Sina, Li-Kroeger, David, Schmidt, Robert E., Pestronk, Alan, Rosenfeld, Jill A., Burrage, Lindsay, Herndon, Mitchell J., Chen, Shan, Shillington, Amelle, Vawter-Lee, Marissa, Hopkin, Robert, Rodriguez-Smith, Jackeline, Henrickson, Michael, Lee, Brendan, Moser, Ann B., Jones, Richard O., Watkins, Paul, Yoo, Taekyeong, Mar, Soe, Choi, Murim, Bucelli, Robert C., Yamamoto, Shinya, Lee, Hyun Kyoung, Prada, Carlos E., Chae, Jong-Hee, Vogel, Tiphanie P., Bellen, Hugo J.

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IRF2BPL Is Associated with Neurological Phenotypes av Marcogliese, Paul C., Shashi, Vandana, Spillmann, Rebecca C., Stong, Nicholas, Rosenfeld, Jill A., Koenig, Mary Kay, Martínez-Agosto, Julián A., Herzog, Matthew, Chen, Agnes H., Dickson, Patricia I., Lin, Henry J., Vera, Moin U., Salamon, Noriko, Ortiz, Damara, Infante, Elena, Steyaert, Wouter, Dermaut, Bart, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Yang, Yaping, Smith, Edward C., Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D., Golden-Grant, Katie, Yamamoto, Shinya, Wangler, Michael F., Mirzaa, Ghayda, Hemelsoet, Dimitri, Lee, Brendan, Nelson, Stanley F., Goldstein, David B., Bellen, Hugo J., Pena, Loren D.M.

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IRF2BPL Is Associated with Neurological Phenotypes av Marcogliese, Paul C., Shashi, Vandana, Spillmann, Rebecca C., Stong, Nicholas, Rosenfeld, Jill A., Koenig, Mary Kay, Martínez-Agosto, Julián A., Herzog, Matthew, Chen, Agnes H., Dickson, Patricia I., Lin, Henry J., Vera, Moin U., Salamon, Noriko, Graham, John M., Ortiz, Damara, Infante, Elena, Steyaert, Wouter, Dermaut, Bart, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Yang, Yaping, Smith, Edward C., Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D., Golden-Grant, Katie, Yamamoto, Shinya, Wangler, Michael F., Mirzaa, Ghayda, Hemelsoet, Dimitri, Lee, Brendan, Nelson, Stanley F., Goldstein, David B., Bellen, Hugo J., Pena, Loren D.M.

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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases av Marcogliese, Paul C., Deal, Samantha L., Andrews, Jonathan, Harnish, J. Michael, Bhavana, V. Hemanjani, Graves, Hillary K., Jangam, Sharayu, Luo, Xi, Liu, Ning, Bei, Danqing, Chao, Yu-Hsin, Hull, Brooke, Lee, Pei-Tseng, Pan, Hongling, Bhadane, Pradnya, Huang, Mei-Chu, Longley, Colleen M., Chao, Hsiao-Tuan, Chung, Hyung-lok, Haelterman, Nele A., Kanca, Oguz, Manivannan, Sathiya N., Rossetti, Linda Z., German, Ryan J., Gerard, Amanda, Schwaibold, Eva Maria Christina, Fehr, Sarah, Guerrini, Renzo, Vetro, Annalisa, England, Eleina, Murali, Chaya N., Barakat, Tahsin Stefan, van Dooren, Marieke F., Wilke, Martina, van Slegtenhorst, Marjon, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A., Madden, Jill A., Agrawal, Pankaj B., Keren, Boris, Courtin, Thomas, Perrin, Laurence, Brugger, Melanie, Roser, Timo, Leiz, Steffen, Mau-Them, Frederic Tran, Delanne, Julian, Sukarova-Angelovska, Elena, Trajkova, Slavica, Rosenhahn, Erik, Strehlow, Vincent, Platzer, Konrad, Keller, Roberto, Pavinato, Lisa, Brusco, Alfredo, Rosenfeld, Jill A., Marom, Ronit, Wangler, Michael F., Yamamoto, Shinya

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