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1دورية أكاديمية
المؤلفون: Rebecca Truty, Nila Patil, Raman Sankar, Joseph Sullivan, John Millichap, Gemma Carvill, Ali Entezam, Edward D. Esplin, Amy Fuller, Michelle Hogue, Britt Johnson, Amirah Khouzam, Yuya Kobayashi, Rachel Lewis, Keith Nykamp, Darlene Riethmaier, Jody Westbrook, Michelle Zeman, Robert L. Nussbaum, Swaroop Aradhya
المصدر: Epilepsia Open, Vol 4, Iss 3, Pp 397-408 (2019)
مصطلحات موضوعية: diagnostic genetic testing, next‐generation sequencing panel, copy number variant, precision medicine, clinical management, variant of uncertain significance, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2470-9239
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المؤلفون: Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Özlem Baysal, Dewi Hartwich, Laura Holthöfer, Bertrand Isidor, Benjamin Cogne, Dagmar Wieczorek, Valeria Capra, Marcello Scala, Patrizia De Marco, Marzia Ognibene, Rami Abou Jamra, Konrad Platzer, Lauren B. Carter, Outi Kuismin, Arie van Haeringen, Reza Maroofian, Irene Valenzuela, Ivon Cuscò, Julian A. Martinez-Agosto, Ahna M. Rabani, Heather C. Mefford, Elaine M. Pereira, Charlotte Close, Kwame Anyane-Yeboa, Mallory Wagner, Mark C. Hannibal, Pia Zacher, Isabelle Thiffault, Gea Beunders, Muhammad Umair, Priya T. Bhola, Erin McGinnis, John Millichap, Jiddeke M van de Kamp, Eloise J. Prijoles, Amy Dobson, Amelle Shillington, Brett H. Graham, Evan-Jacob Garcia, Maureen Kelly Galindo, Fabienne G. Ropers, Esther AR Nibbeling, Gail Hubbard, Catherine Karimov, Guido Goj, Renee Bend, Julie Rath, Michelle M Morrow, Francisca Millan, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Mitja Kurki, Roger E Stevenson, Gijs W.E. Santen, Markus Zweier, Philippe M. Campeau, Mariasavina Severino, André Reis, Andrea Accogli, Georgia Vasileiou
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c27085d1605a13771b0976056173917e
https://doi.org/10.1101/2023.03.30.23287962 -
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المؤلفون: Dennis J. Dlugos, Jacqueline A. French, Cynthia L. Harden, Simon N. Pimstone, Noam Butterfield, Celene Grayson, Ernesto Aycardi, John Millichap
المصدر: Epilepsia Open
Epilepsia Open, Vol 6, Iss 1, Pp 38-44 (2021)مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Video Recording, Electroencephalography, lcsh:RC346-429, Food and drug administration, Epilepsy, Seizure diary, Treatment trial, Seizures, medicine, Humans, KCNQ2 Potassium Channel, In patient, Prospective Studies, Critical Reviews, lcsh:Neurology. Diseases of the nervous system, KCNQ2, Pediatric epilepsy, Brain Diseases, Clinical Trials as Topic, medicine.diagnostic_test, business.industry, tonic seizures, Infant, Newborn, Infant, Critical Review, medicine.disease, United States, Diaries as Topic, Clinical trial, seizure diaries, Neurology, epilepsy, video‐EEG, Neurology (clinical), business, Epileptic Syndromes
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المؤلفون: Tatiana Abramova, Christopher H. Thompson, Alfred L. George, John Millichap, Jean Marc DeKeyser, Scott K. Adney
المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1488-1501 (2020)مصطلحات موضوعية: 0301 basic medicine, Male, Heterologous, Neurosciences. Biological psychiatry. Neuropsychiatry, Pharmacology, law.invention, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Sodium channel blocker, law, Genotype, Medicine, Humans, Patch clamp, Age of Onset, RC346-429, Genetic Association Studies, Research Articles, NAV1.2 Voltage-Gated Sodium Channel, business.industry, General Neuroscience, Infant, Carbamazepine, medicine.disease, Phenotype, Electrophysiological Phenomena, 030104 developmental biology, Recombinant DNA, Anticonvulsants, Neurology. Diseases of the nervous system, Neurology (clinical), business, 030217 neurology & neurosurgery, RC321-571, medicine.drug, Research Article
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المؤلفون: Robert A. Hegele, Maria Iascone, Kevin A. Shapiro, Nicolas Chatron, Marwan Shinawi, Joel Charrow, Jeffrey W. Innis, Luitgard Graul-Neumann, Joanna Goes Castro Meira, Anna Lehman, Dawn L. Earl, Victoria R. Sanders, Shannon Rego, David A. Sweetser, Clémantine Dimartino, Wilhelmina S. Kerstjens-Frederikse, Antonio Vitobello, Davor Lessel, Daniel Grinberg, Laurence Faivre, Ryan Peretz, Katherine M. Christensen, Emma Reesor, Erin Beaver, Elizabeth Wohler, Margot R.F. Reijnders, Deborah Barbouth, Anna Cereda, Kaja Kristine Selmer, Melissa A. Walker, Barbro Stadheim, Alessandro Serretti, Helen Kingston, Jill Clayton-Smith, Raymond Lewandowski, Bernarda Lozić, Robert Stratton, Amelia Kirby, Anne H. O’Donnell-Luria, Sara Gabbiadini, Susanna Balcells, Myriam Oufadem, Christel Thauvin, Maha Aly, Wendy K. Chung, Susan M. White, Lauren C. Briere, Thomas Smol, Stanislas Lyonnet, Roberto Colombo, Catherine E. Keegan, Marie T. McDonald, Melanie Parisot, Tiong Yang Tan, Brian Wong, Christopher T. Gordon, Magnus Dehli Vigeland, Frances A. High, Emily Bryant, Audrey Labalme, Nara Sobreira, Arnold Munnich, Jeanne Amiel, Dayna Morel Swols, Raquel Rabionet, Laura Castilla-Vallmanya, Jennifer Heeley, Gunnar Houge, Michael J. Gambello, Bernardo Blanco-Sánchez, Lynn Pais, Olena M. Vaske, Roser Urreizti, Alison Wray, Veronique Pingault, Damien Sanlaville, John Christodoulou, John Millichap, Valérie Cormier-Daire, Parul Jayakar, Helen Cox, Frédéric Tran Mau-Them, Belinda Chong, Victoria Mok Siu, Anne Slavotinek, Antonie J. van Essen, Ingvild Aukrust, Lorne A. Clarke, Rachel Gannaway, Anne Dieux-Coeslier, Patrick Nitschké, Tony Yao, Simon Sadedin, Danielle Karlowicz, Christelle Rougeot, Christine Bole-Feysot, Sandra Yang, Megan T. Cho, Gaetan Lesca, Christiane Zweier
المساهمون: Castilla-Vallmanya L., Selmer K.K., Dimartino C., Rabionet R., Blanco-Sanchez B., Yang S., Reijnders M.R.F., van Essen A.J., Oufadem M., Vigeland M.D., Stadheim B., Houge G., Cox H., Kingston H., Clayton-Smith J., Innis J.W., Iascone M., Cereda A., Gabbiadini S., Chung W.K., Sanders V., Charrow J., Bryant E., Millichap J., Vitobello A., Thauvin C., Mau-Them F.T., Faivre L., Lesca G., Labalme A., Rougeot C., Chatron N., Sanlaville D., Christensen K.M., Kirby A., Lewandowski R., Gannaway R., Aly M., Lehman A., Clarke L., Graul-Neumann L., Zweier C., Lessel D., Lozic B., Aukrust I., Peretz R., Stratton R., Smol T., Dieux-Coeslier A., Meira J., Wohler E., Sobreira N., Beaver E.M., Heeley J., Briere L.C., High F.A., Sweetser D.A., Walker M.A., Keegan C.E., Jayakar P., Shinawi M., Kerstjens-Frederikse W.S., Earl D.L., Siu V.M., Reesor E., Yao T., Hegele R.A., Vaske O.M., Rego S., Shapiro K.A., Wong B., Gambello M.J., McDonald M., Karlowicz D., Colombo R., Serretti A., Pais L., O'Donnell-Luria A., Wray A., Sadedin S., Chong B., Tan T.Y., Christodoulou J., White S.M., Slavotinek A., Barbouth D., Morel Swols D., Parisot M., Bole-Feysot C., Nitschke P., Pingault V., Munnich A., Cho M.T., Cormier-Daire V., Balcells S., Lyonnet S., Grinberg D., Amiel J., Urreizti R., Gordon C.T., MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Genetics in Medicine, 22(7), 1215-1226. Nature Publishing Group
Genet Medمصطلحات موضوعية: 0301 basic medicine, NF-KAPPA-B, PROTEIN, 030105 genetics & heredity, medicine.disease_cause, Germline, Transcriptome, ACTIVATION, POLYUBIQUITINATION, Missense mutation, Exome, Genetics (clinical), Genetics, Sanger sequencing, Mutation, leads, Necrosi, craniofacial development, Phenotype, Tumor Necrosis Factor Receptor-Associated Peptides and Proteins, intellectual disability, patent ductus arteriosu, symbols, Mutation, Missense, Biology, traf7, Article, akt1, target, 03 medical and health sciences, symbols.namesake, Necrosis, patent ductus arteriosus, medicine, Humans, blepharophimosi, Tumors, MUTATIONS, Fibroblasts, medicine.disease, Blepharophimosis, TRAF7, blepharophimosis, GENOMIC ANALYSIS, Germ Cells, 030104 developmental biology, MENINGIOMAS
وصف الملف: STAMPA; application/pdf
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المؤلفون: Gemma L. Carvill, Jacqueline J Wolak, Joel Charrow, Christopher Miller, Emily Bryant, Victoria R. Sanders, Jeffrey D. Calhoun, Jessica Giannelli, John Millichap, Egidio Spinelli
المصدر: American Journal of Medical Genetics Part A. 182:1460-1465
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Microcephaly, Glycosylation, Protein subunit, 030105 genetics & heredity, 03 medical and health sciences, chemistry.chemical_compound, Internal medicine, Genetics, medicine, Genetics (clinical), chemistry.chemical_classification, business.industry, medicine.disease, Phenotype, carbohydrates (lipids), 030104 developmental biology, Endocrinology, chemistry, Oligosaccharyltransferase complex, Transferrin, Dysplasia, lipids (amino acids, peptides, and proteins), business, Congenital disorder of glycosylation
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المؤلفون: Josep Dalmau, Bradford B. Worrall, Olga Ciccarelli, Jonathan W. Mink, Anthony A. Amato, John R. Corboy, Robert A. Gross, Ryan J. Uitti, John Millichap, Rebecca F. Gottesman, Stefan M. Pulst, Murray Grossman, Gregory D. Cascino
المصدر: Neurology. 94:3-11
مصطلحات موضوعية: Medical education, business.industry, Scientific writing, Section (typography), Confidentiality, Neurology (clinical), Neurologic disease, business, Psychology, Turnaround time, Publication, Constructive, Patient care
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ede3ac23adc4e52889dda011a1de02e
https://doi.org/10.1212/wnl.0000000000008689 -
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المؤلفون: Paula Goldenberg, Jeffrey D. Calhoun, Eyby Leon, Sunita N. Misra, Ethan M. Goldberg, Carlos G. Vanoye, Isabelle Thiffault, Kevin A. Strauss, Jennifer A. Kearney, Neil R. Friedman, Ali Torkamani, John Millichap, Jasper J. van der Smagt, Lauren E. Grote, Mark C. Hannibal, Katarina L. Fabre, Dennis M. Echevarria, Robert P. Carson, Dianalee McKnight, Jullianne Diaz, Jessica Litwin, Bryan Lynch, Annapurna Poduri, John B. O’Connor, Eric D. Marsh, Alfred L. George, Carol J. Saunders, Allison Schreiber, Joseph E. Jacher, Laurie A. Demmer, Koen L.I. van Gassen, Seok Kyu Kang
المصدر: Annals of Neurology. 86:899-912
مصطلحات موضوعية: 0301 basic medicine, Mechanism (biology), Chinese hamster ovary cell, Heterologous, Biology, biology.organism_classification, Potassium channel, Cell biology, 03 medical and health sciences, Electrophysiology, 030104 developmental biology, 0302 clinical medicine, Neurology, Neurology (clinical), Cricetulus, Peptide sequence, 030217 neurology & neurosurgery, Function (biology)
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المؤلفون: Elizabeth Roeder, Simone Mandelstam, Alicia Guemez-Gamboa, Ingrid E. Scheffer, Satoko Kumada, Emily Bryant, Lance H. Rodan, Berkley Schmidt, Jessica Giannelli, Kyle R Christensen, Kirsty McWalter, Kazuhiro Iwama, John Millichap, Alison M. Muir, Egidio Spinelli, Tiziano Pisano, Heather C Mefford, Linda Laux, Renzo Guerrini, Eva H. Brilstra, Rebecca O. Littlejohn, Amy L Schneider, Carmen Barba, Gemma L. Carvill, Naomichi Matsumoto, Elysa J. Marco, Angus C. Nairn, William G. Wilson, Jennifer Rakotomamonjy, Richard H. van Jaarsveld
مصطلحات موضوعية: Genetics, Epilepsy, Neurodevelopmental disorder, HEK 293 cells, medicine, Missense mutation, Transfection, Biology, Corpus callosum, medicine.disease, Gene, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::32f1eb573df871ce718e8a420d82fdea
https://doi.org/10.1101/2021.03.09.434675 -
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المؤلفون: Christopher H. Thompson, Carlos G. Vanoye, John Millichap, Alfred L. George, Tracy S. Gertler
المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1606-1615 (2019)مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Neurosciences. Biological psychiatry. Neuropsychiatry, Nerve Tissue Proteins, Potassium Channels, Sodium-Activated, Bioinformatics, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Humans, Channel blocker, RC346-429, Child, Research Articles, Dystonia, business.industry, General Neuroscience, Chinese hamster ovary cell, Brain, Infant, medicine.disease, Magnetic Resonance Imaging, Status dystonicus, Potassium channel, 3. Good health, Electrophysiology, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Neurology. Diseases of the nervous system, Neurology (clinical), business, Spasms, Infantile, 030217 neurology & neurosurgery, RC321-571, Research Article
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