Výsledky vyhledávání - Picker, Jonathan

New Innovations: Therapeutic opportunities for Intellectual disabilities Autor Picker, Jonathan D., Walsh, Christopher A.

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Fluvoxamine for the treatment of COVID-19 Autor Kim, Hyun, Manzi, Shannon, Gonzelez-Heydrich, Joseph, Picker, Jonathan

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Peri-mortem Evaluation of Infants Who Die Without a Diagnosis: Focus on Advances in Genomic Technology Autor Wojcik, Monica H, Brodsky, Dara, Stewart, Jane E, Picker, Jonathan

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Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia Autor Adegbola, Abidemi, Lutz, Richard, Nikkola, Elina, Strom, Samuel P., Picker, Jonathan, Wynshaw-Boris, Anthony

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Prokaryotic Collagen-Like Proteins as Novel Biomaterials Autor Picker, Jonathan, Lan, Ziyang, Arora, Srishtee, Green, Mykel, Hahn, Mariah, Cosgriff-Hernandez, Elizabeth, Hook, Magnus

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Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy Autor McLaughlin, Heather M, Kelly, Melissa A, Hawley, Pamela P, Darras, Basil T, Funke, Birgit, Picker, Jonathan

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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene Autor Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D

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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene Autor Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D

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Abnormal Mechanisms of Plasticity and Metaplasticity in Autism Spectrum Disorders and Fragile X Syndrome Autor Oberman, Lindsay M., Ifert-Miller, Fritz, Najib, Umer, Bashir, Shahid, Gonzalez-Heydrich, Joseph, Picker, Jonathan, Rotenberg, Alexander, Pascual-Leone, Alvaro

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Transcranial Magnetic Stimulation Provides Means to Assess Cortical Plasticity and Excitability in Humans with Fragile X Syndrome and Autism Spectrum Disorder Autor Oberman, Lindsay, Ifert-Miller, Fritz, Najib, Umer, Bashir, Shahid, Woollacott, Ione, Gonzalez-Heydrich, Joseph, Picker, Jonathan, Rotenberg, Alexander, Pascual-Leone, Alvaro

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Ube3a mRNA and protein expression are not decreased in Mecp2(R168X) mutant mice Autor Lawson-Yuen, Amy, Liu, Daniel, Han, Liqun, Jiang, Zhichun I., Tsai, Guochuan E., Basu, Alo C., Picker, Jonathan, Feng, Jiamin, Coyle, Joseph T.

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Phenotypic Characterization of Mice Heterozygous for a Null Mutation of Glutamate Carboxypeptidase II Autor Han, Liqun, Picker, Jonathan D., Schaevitz, Laura R., Tsai, Guochuan, Feng, Jiamin, Jiang, Zhichun, Chu, Hillary C., Basu, Alo C., Berger-Sweeney, Joanne, Coyle, Joseph T.

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Expanding the Phenotypic Spectrum Associated with OPHN1 Variants Autor Schwartz, Talia S., Wojcik, Monica H., Pelletier, Renee C., Edward, Heather L., Picker, Jonathan D., Holm, Ingrid A., Towne, Meghan C., Beggs, Alan H., Agrawal, Pankaj B.

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Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort Autor Liu, Liying, Liu, Fang, Wang, Qiuhong, Xie, Hua, Li, Zhengchang, Lu, Qian, Wang, Yangyang, Zhang, Mengna, Zhang, Yu, Picker, Jonathan, Cui, Xiaodai, Zou, Liping, Chen, Xiaoli

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Advances in the Treatment of Fragile X Syndrome Autor Hagerman, Randi J., Berry-Kravis, Elizabeth, Kaufmann, Walter E., Ono, Michele Y., Tartaglia, Nicole, Lachiewicz, Ave, Kronk, Rebecca, Delahunty, Carol, Hessl, David, Visootsak, Jeannie, Picker, Jonathan, Gane, Louise, Tranfaglia, Michael

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Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome Autor Thaker, Vidhu V., Esteves, Kristyn M., Towne, Meghan C., Brownstein, Catherine A., James, Philip M., Crowley, Laura, Hirschhorn, Joel N., Elsea, Sarah H., Beggs, Alan H., Picker, Jonathan, Agrawal, Pankaj B.

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Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations Autor Brownstein, Catherine A., Beggs, Alan H., Rodan, Lance, Shi, Jiahai, Towne, Meghan C., Pelletier, Renee, Cao, Siqi, Rosenberg, Paul A., Urion, David K., Picker, Jonathan, Tan, Wen-Hann, Agrawal, Pankaj B.

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BRAT1 Mutations Present with a Spectrum of Clinical Severity Autor Srivastava, Siddharth, Olson, Heather E., Cohen, Julie S., Gubbels, Cynthia S., Lincoln, Sharyn, Davis, Brigette Tippin, Shahmirzadi, Layla, Gupta, Siddharth, Picker, Jonathan, Yu, Timothy W., Miller, David T., Soul, Janet S., Poretti, Andrea, Naidu, SakkuBai

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Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield Autor Geng, Juan, Picker, Jonathan, Zheng, Zhaojing, Zhang, Xiaoqing, Wang, Jian, Hisama, Fuki, Brown, David W, Mullen, Mary P, Harris, David, Stoler, Joan, Seman, Ann, Miller, David T, Fu, Qihua, Roberts, Amy E, Shen, Yiping

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Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes Autor Whitley, Brittany N, Lam, Christina, Cui, Hong, Haude, Katrina, Bai, Renkui, Escobar, Luis, Hamilton, Afifa, Brady, Lauren, Tarnopolsky, Mark A, Dengle, Lauren, Picker, Jonathan, Lincoln, Sharyn, Lackner, Laura L, Glass, Ian A, Hoppins, Suzanne

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