Výsledky vyhledávání - "Guillaume Jimenez"

ANSWER: Annotation Software for Electronic Reporting

Autor: Chelsea Raulerson, Guillaume Jimenez, Benjamin Wakeland, Erika Villa, Jeffrey A. SoRelle, James Malter, Jeffrey Gagan, Brandi Cantarel

Publikováno v: JCO Clinical Cancer Informatics.

PURPOSE To better use genetic testing, which is used by clinicians to explain the molecular mechanism of disease and to suggest clinical actionability and new treatment options, clinical next-generation sequencing (NGS) laboratories must send the res

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d5c0a571c1b704245fc775c89116373
https://doi.org/10.1200/cci.21.00113

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MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Autor: Gali Heimer, Juha M. Kerätär, Lisa G. Riley, Shanti Balasubramaniam, Eran Eyal, Laura P. Pietikäinen, J. Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha A. Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J. Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M. Silberstein, Chen Hoffmann, Annick Raas-Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J. Kastaniotis, Bruria Ben-Zeev, Susan J. Hayflick, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter Anderson, Marcus Annable, Elizabeth Marchani Blue, Kati J. Buckingham, Jennifer Chin, Jessica X. Chong, Rodolfo Cornejo, Colleen P. Davis, Christopher Frazar, Zongxiao He, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Tom Kolar, Stephanie A. Krauter, Daniel Luksic, Colby T. Marvin, Sean McGee, Daniel J. McGoldrick, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Peggy D. Robertson, Regie Santos-Cortez, Aditi Shankar, Krystal Slattery, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Monica Tackett, Gao Wang, Marc Wegener, Jeffrey M. Weiss, Riana I. Wernick, Marsha M. Wheeler, Qian Yi

Publikováno v: The American Journal of Human Genetics. 99:1229-1244

Mitochondrial fatty acid synthesis (mtFAS) is an evolutionarily conserved pathway essential for the function of the respiratory chain and several mitochondrial enzyme complexes. We report here a unique neurometabolic human disorder caused by defectiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f5df4ba7c05bbdf056967b31831bace
https://doi.org/10.1016/j.ajhg.2016.09.021

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Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Autor: Jessica X. Chong, Lindsay C. Burrage, Anita E. Beck, Colby T. Marvin, Margaret J. McMillin, Kathryn M. Shively, Tanya M. Harrell, Kati J. Buckingham, Carlos A. Bacino, Mahim Jain, Yasemin Alanay, Susan A. Berry, John C. Carey, Richard A. Gibbs, Brendan H. Lee, Deborah Krakow, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, Gonçalo R. Abecasis, Peter Anderson, Elizabeth Marchani Blue, Marcus Annable, Brian L. Browning, Christina Chen, Jennifer Chin, Gregory M. Cooper, Colleen P. Davis, Christopher Frazar, Zongxiao He, Preti Jain, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Goo Jun, Martin Kircher, Tom Kolar, Stephanie A. Krauter, Niklas Krumm, Suzanne M. Leal, Daniel Luksic, Sean McGee, Patrick O’Reilly, Bryan Paeper, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Christa Poel, Frederic Reinier, Peggy D. Robertson, Regie Santos-Cortez, Tristan Shaffer, Cindy Shephard, Deborah L. Siegel, Joshua D. Smith, Jeffrey C. Staples, Holly K. Tabor, Monica Tackett, Jason G. Underwood, Marc Wegener, Gao Wang, Marsha M. Wheeler, Qian Yi

Publikováno v: American journal of human genetics, vol 96, iss 5

Multiple pterygium syndrome (MPS) is a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia, scoliosis, and congenital contractures of the limbs. MPS typically segregates as an autosomal-r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f50354378674c120d40aab4e10ade2b7

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Akademický článek

Simulation of Dynamic Performance of DeFi Protocol Based on Historical Crypto Market Behavior.

Autor: Grigorova, Iveta¹ (AUTHOR) akaramfilov@tu-sofia.bg, Karamfilov, Aleksandar¹ (AUTHOR), Merakov, Radostin¹ (AUTHOR), Efremov, Aleksandar¹ (AUTHOR)

Publikováno v: Risks. Jan2024, Vol. 12 Issue 1, p3. 20p.

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