Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Fauni H"'
Autor:
Soldatos A; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Nutman TB; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Johnson T; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Dowell SF; Centers for Disease Control and Prevention, Atlanta, GA 30329, USA., Sejvar JJ; Centers for Disease Control and Prevention, Atlanta, GA 30329, USA., Wilson MR; University of California San Francisco, San Francisco, CA 94143, USA.; Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94158, USA., DeRisi JL; University of California San Francisco, San Francisco, CA 94143, USA.; Chan Zuckerberg Biohub, San Francisco, CA 94158, USA., Inati SK; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Groden C; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Evans C; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., O'Connell EM; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Toliva BO; Ministry of Health, Kampala, Republic of Uganda., Aceng JR; Ministry of Health, Kampala, Republic of Uganda., Aryek-Kwe J; Ministry of Health, Kampala, Republic of Uganda., Toro C; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Stratakis CA; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Buckler AG; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Cantilena C; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Palmore TN; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Thurm A; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Baker EH; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Chang R; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Fauni H; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Adams D; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Macnamara EF; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Lau CC; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Malicdan MCV; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Pusey-Swerdzewski B; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Downing R; Uganda Virus Research Institute, Ministry of Health, Entebbe, Republic of Uganda., Bunga S; Centers for Disease Control and Prevention, Atlanta, GA 30329, USA., Thomas JD; National Center for Environmental Health, Atlanta, GA 30341, USA., Gahl WA; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA., Nath A; National Institutes of Health Intramural Research Program, Bethesda, MD 20892, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Mar 01; Vol. 146 (3), pp. 968-976.
Autor:
Sey NYA; UNC Neuroscience Center, University of North Carolina, Chapel Hill, NC, USA., Hu B; UNC Neuroscience Center, University of North Carolina, Chapel Hill, NC, USA.; Department of Genetics, University of North Carolina, Chapel Hill, NC, USA., Mah W; UNC Neuroscience Center, University of North Carolina, Chapel Hill, NC, USA.; Department of Genetics, University of North Carolina, Chapel Hill, NC, USA., Fauni H; UNC Neuroscience Center, University of North Carolina, Chapel Hill, NC, USA., McAfee JC; UNC Neuroscience Center, University of North Carolina, Chapel Hill, NC, USA.; Department of Genetics, University of North Carolina, Chapel Hill, NC, USA., Rajarajan P; Graduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Brennand KJ; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Akbarian S; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Won H; UNC Neuroscience Center, University of North Carolina, Chapel Hill, NC, USA. hyejung_won@med.unc.edu.; Department of Genetics, University of North Carolina, Chapel Hill, NC, USA. hyejung_won@med.unc.edu.
Publikováno v:
Nature neuroscience [Nat Neurosci] 2020 Apr; Vol. 23 (4), pp. 583-593. Date of Electronic Publication: 2020 Mar 09.
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
Autor:
Macnamara EF; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, Maryland.; Office of the Clinical Director, National Human Genome Research Institute National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Koehler AE; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, Maryland., D'Souza P; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, Maryland.; Office of the Clinical Director, National Human Genome Research Institute National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Estwick T; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, Maryland.; Office of the Clinical Director, National Human Genome Research Institute National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Lee P; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, Maryland.; Office of the Clinical Director, National Human Genome Research Institute National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Vezina G; Division of Diagnostic Imaging and Radiology, Children's National Health System, Washington, District of Columbia., Fauni H; Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland., Braddock SR; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, Maryland., Torti E; Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, Missouri., Holt JM; Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, Missouri., Sharma P; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Malicdan MCV; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, Maryland., Tifft CJ; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, Maryland.; Office of the Clinical Director, National Human Genome Research Institute National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Publikováno v:
Human mutation [Hum Mutat] 2019 May; Vol. 40 (5), pp. 532-538. Date of Electronic Publication: 2019 Mar 12.
Autor:
Lv, Yinchun, Chen, Yulin, Li, Xue, Huang, Qiaorong, Lu, Ran, Ye, Junman, Meng, Wentong, Fan, Chuanwen, Mo, Xianming
Publikováno v:
Frontiers in Psychiatry; 2024, p1-10, 10p
Autor:
Federmann, Lydia M., David, Friederike S., Jockwitz, Christiane, Mühleisen, Thomas W., Pelzer, Dominique I., Nöthen, Markus M., Caspers, Svenja, Amunts, Katrin, Goltermann, Janik, Andlauer, Till F. M., Stein, Frederike, Brosch, Katharina, Kircher, Tilo, Cichon, Sven, Dannlowski, Udo, Sindermann, Lisa, Forstner, Andreas J.
Publikováno v:
Translational Psychiatry; 10/2/2024, Vol. 14 Issue 1, p1-10, 10p
Autor:
Zhao, Xingzhong1,2 (AUTHOR), Song, Liting1,2 (AUTHOR), Yang, Anyi1,2 (AUTHOR), Zhang, Zichao1,2 (AUTHOR), Zhang, Jinglong1,2 (AUTHOR), Yang, Yucheng T.1,2 (AUTHOR) yangyy@fudan.edu.cn, Zhao, Xing-Ming1,2,3,4 (AUTHOR) xmzhao@fudan.edu.cn
Publikováno v:
Genome Medicine. 7/24/2023, Vol. 15 Issue 1, p1-20. 20p.
Autor:
Tinker, Rory J.1 (AUTHOR) rory.tinker@vumc.org, Guess, Tiffany2 (AUTHOR), Rinker, David C.3 (AUTHOR), Sheehan, Jonathan H.4 (AUTHOR), Lubarsky, Daniel1 (AUTHOR), Porath, Binu2 (AUTHOR), Mosera, Mackenzie1 (AUTHOR), Mayo, Ping2 (AUTHOR), Solem, Emily2 (AUTHOR), Lee, Laura A.2 (AUTHOR), Sharam, Asha5 (AUTHOR), Brault, Jennifer1 (AUTHOR)
Publikováno v:
Molecular Genetics & Genomic Medicine. Dec2022, Vol. 10 Issue 12, p1-5. 5p.
Autor:
Liu, Shuang1 (AUTHOR), Won, Hyejung2,3 (AUTHOR), Clarke, Declan4 (AUTHOR), Matoba, Nana2,3 (AUTHOR), Khullar, Saniya1,5 (AUTHOR), Mu, Yudi6 (AUTHOR), Wang, Daifeng1,5,7 (AUTHOR) daifeng.wang@wisc.edu, Gerstein, Mark4,8,9,10 (AUTHOR) mark@gersteinlab.org
Publikováno v:
Genome Medicine. 11/24/2022, Vol. 14 Issue 1, p1-15. 15p.
Autor:
Gamba, Gerardo1 (AUTHOR) gamba@biomedicas.unam.mx
Publikováno v:
Membranes. Oct2022, Vol. 12 Issue 10, p911-N.PAG. 11p.
Autor:
Casella, Alex M.1,2 (AUTHOR), Colantuoni, Carlo3 (AUTHOR), Ament, Seth A.1,4 (AUTHOR) sament@som.umaryland.edu
Publikováno v:
PLoS Computational Biology. 9/7/2022, Vol. 18 Issue 9, p1-21. 21p. 2 Diagrams, 1 Chart, 4 Graphs.