-
1دورية أكاديمية
المؤلفون: Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah vonSpiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van derKnaap, Nicole I. Wolf
المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 83-93 (2020)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
-
2دورية أكاديمية
المؤلفون: Rocio Rius, Nicole J. Van Bergen, Alison G. Compton, Lisa G. Riley, Maina P. Kava, Shanti Balasubramaniam, David J. Amor, Miriam Fanjul-Fernandez, Mark J. Cowley, Michael C. Fahey, Mary K. Koenig, Gregory M. Enns, Simon Sadedin, Meredith J. Wilson, Tiong Y. Tan, David R. Thorburn, John Christodoulou
المصدر: Journal of Clinical Medicine, Vol 8, Iss 11, p 2020 (2019)
مصطلحات موضوعية: mitochondrial, pnpt1, pnpase, interferon, oxphos, respiratory chain, mutation, splice defect, Medicine
وصف الملف: electronic resource
-
3
المؤلفون: Elizabeth Langley, Laura S. Farach, Mary K. Koenig, Hope Northrup, David F. Rodriguez‐Buritica, Kate Mowrey
المصدر: American Journal of Medical Genetics Part A. 188:1688-1692
مصطلحات موضوعية: Male, Asian People, Genes, X-Linked, Intellectual Disability, Republic of Korea, Genetics, Humans, Female, Nerve Tissue Proteins, Genetics (clinical)
-
4
المؤلفون: Sarah L. Stenton, Marketa Tesarova, Natalia L. Sheremet, Claudia B. Catarino, Valerio Carelli, Elżbieta Ciara, Kathryn Curry, Martin Engvall, Leah R. Fleming, Peter Freisinger, Katarzyna Iwanicka-Pronicka, Elżbieta Jurkiewicz, Thomas Klopstock, Mary K. Koenig, Hana Kolářová, Bohdan Kousal, Tatiana Krylova, Chiara La Morgia, Lenka Nosková, Dorota Piekutowska-Abramczuk, Sam N. Russo, Viktor Stránecký, Iveta Tóthová, Frank Träisk, Holger Prokisch
المصدر: Brain 145, 1624-1631 (2022)
Brain 145(5), 1624-1631 (2022). doi:10.1093/brain/awac052مصطلحات موضوعية: Adult, Male, genetic structures, genetics [Mutation], Optic Atrophy, Hereditary, Leber, Dnajc30, Lhon, Leigh Syndrome, Mitochondrial Disease, genetics [DNA, Mitochondrial], Leigh syndrome, DNA, Mitochondrial, DNAJC30, eye diseases, LHON, mitochondrial disease, genetics [Optic Atrophy, Hereditary, Leber], Optic Atrophies, Hereditary, Mutation, genetics [Leigh Disease], Humans, Female, ddc:610, Neurology (clinical), Leigh Disease, Child
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2bf87daded9ca23e3b2756c60479a76
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64376 -
5
المؤلفون: Dongxue Mao, Chloe M. Reuter, Maura R.Z. Ruzhnikov, Anita E. Beck, Emily G. Farrow, Lisa T. Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie, Laurie Robak, Matthew T. Wheeler, Lindsay C. Burrage, Mahim Jain, Pengfei Liu, Daniel Calame, Sébastien Küry, Martin Sillesen, Klaus Schmitz-Abe, Davide Tonduti, Luigina Spaccini, Maria Iascone, Casie A. Genetti, Mary K. Koenig, Madeline Graf, Alyssa Tran, Mercedes Alejandro, Brendan H. Lee, Isabelle Thiffault, Pankaj B. Agrawal, Jonathan A. Bernstein, Hugo J. Bellen, Hsiao-Tuan Chao, Maria T. Acosta, Margaret Adam, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Laura Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Guney Bademci, Eva Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Gabriel F. Batzli, Pinar Bayrak-Toydemir, Anita Beck, Alan H. Beggs, Gill Bejerano, Jimmy Bennet, Beverly Berg-Rood, Raphael Bernier, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo Botto, Lauren C. Briere, Elly Brokamp, Elizabeth A. Burke, Manish J. Butte, Peter Byers, John Carey, Olveen Carrasquillo, Ta Chen Peter Chang, Sirisak Chanprasert, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Emilie D. Douine, David D. Draper, Laura Duncan, Dawn Earl, David J. Eckstein, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Liliana Fernandez, Carlos Ferreira, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, Laure Fresard, William A. Gahl, Ian Glass, Rena A. Godfrey, Katie Golden-Grant, Alica M. Goldman, David B. Goldstein, Alana Grajewski, Catherine A. Groden, Andrea L. Gropman, Sihoun Hahn, Rizwan Hamid, Neil A. Hanchard, Nichole Hayes, Frances High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike-Pyne, Alden Huang, Yong Huang, Rosario Isasi, Fariha Jamal, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Yong-hui Jiang, Jean M. Johnston, Lefkothea Karaviti, Emily G. Kelley, Dana Kiley, Isaac S. Kohane, Jennefer N. Kohler, Deborah Krakow, Donna M. Krasnewich, Susan Korrick, Mary Koziura, Joel B. Krier, Seema R. Lalani, Byron Lam, Christina Lam, Brendan C. Lanpher, Ian R. Lanza, C. Christopher Lau, Kimberly LeBlanc, Hane Lee, Roy Levitt, Richard A. Lewis, Sharyn A. Lincoln, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth Maravilla, Thomas C. Markello, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martínez-Agosto, Shruti Marwaha, Jacob McCauley, Allyn McConkie-Rosell, Colleen E. McCormack, Alexa T. McCray, Heather Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Eva Morava-Kozicz, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, David R. Murdock, Avi Nath, Stan F. Nelson, John H. Newman, Sarah K. Nicholas, Deborah Nickerson, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Aaron Quinlan, Wendy Raskind, Archana N. Raja, Genecee Renteria, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Robb K. Rowley, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Susan L. Samson, Mario Saporta, C. Ron Scott, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, Lisa Shakachite, Prashant Sharma, Vandana Shashi, Jimann Shin, Rebecca Signer, Catherine H. Sillari, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Kevin S. Smith, Lilianna Solnica-Krezel, Rebecca C. Spillmann, Joan M. Stoler, Nicholas Stong, Jennifer A. Sullivan, Angela Sun, Shirley Sutton, David A. Sweetser, Virginia Sybert, Holly K. Tabor, Cecelia P. Tamburro, Queenie K.-G. Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Tiina K. Urv, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Stephanie Wallace, Nicole M. Walley, Chris A. Walsh, Melissa Walker, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Mark Wener, Monte Westerfield, Anastasia L. Wise, Lynne A. Wolfe, Jeremy D. Woods, Shinya Yamamoto, John Yang, Amanda J. Yoon, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, Stephan Zuchner
المصدر: Am J Hum Genet
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Ataxia, Adolescent, Developmental Disabilities, Nervous System Malformations, Leukoencephalopathy, eIF-2 Kinase, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, Report, Genetics, medicine, Humans, Missense mutation, Kinase activity, Child, Genetics (clinical), biology, Leukodystrophy, Genetic Variation, Infant, medicine.disease, White Matter, Hypotonia, Hereditary Central Nervous System Demyelinating Diseases, 030104 developmental biology, Child, Preschool, eIF2B, Immunology, biology.protein, Female, medicine.symptom, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26980c9fdd85d50635d48eb6fbf57dac
https://doi.org/10.1016/j.ajhg.2020.02.016 -
6
-
7
المؤلفون: Mary K. Koenig, Andrew Visnansky, Raluca Dinu, Jeremy Grata, M. R. Fetterman, W. L. Kiser
المصدر: SPIE Proceedings.
مصطلحات موضوعية: Frequency response, Optics, Fabrication, Materials science, business.industry, Terahertz radiation, Extremely high frequency, Detector, Optoelectronics, Millimeter, business, Sensitivity (electronics), Particle detector
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::42cf74987b1b93b64a6864a67c834aab
https://doi.org/10.1117/12.701042 -
8
المؤلفون: Raluca Dinu, Anna Barklund, Mary K. Koenig, Diyun Huang, Danliang Jin, Yun Fang, Timothy C. Parker
المصدر: SPIE Proceedings.
مصطلحات موضوعية: Optical fiber, Materials science, business.industry, Phased array, Physics::Optics, law.invention, Optics, Optical modulator, Modulation, law, Electroactive polymers, Optoelectronics, Photonics, business, Refractive index, Microwave
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d4b27fc3576a6dade1d726faeeafba2b
https://doi.org/10.1117/12.680886 -
9
المؤلفون: Raluca Dinu, Diyun Huang, Mary K. Koenig, Anna Barklund, Yun Fang, Timothy C. Parker, Danliang Jin, Bing Li
المصدر: SPIE Proceedings.
مصطلحات موضوعية: Fabrication, Materials science, Optical modulator, Phased array, business.industry, Bandwidth (signal processing), Broadband, Dissipation factor, Optoelectronics, Photonics, business, Voltage
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c50d3213c65046f350e63ddb50197913
https://doi.org/10.1117/12.682960 -
10
المؤلفون: Alex K.-Y. Jen, Diyun Huang, Zhengwei Shi, Mary K. Koenig, Anna Barklund, Jingdong Luo, Raluca Dinu, Yun Fang, Danliang Jin, Timothy C. Parker
المصدر: SPIE Proceedings.
مصطلحات موضوعية: Optical fiber, Materials science, business.industry, Optical engineering, law.invention, Optics, Optical modulator, law, Electroactive polymers, Photonics, business, Low voltage, Refractive index, Microwave
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a389ea2ab5d6c71e392a3b7b5be09bf7
https://doi.org/10.1117/12.666348
Full Text Finder