المؤلفون: Johnstone, Devon L, Al-Shekaili, Hilal H, Tarailo-Graovac, Maja, Wolf, Nicole I, Ivy, Autumn S, Demarest, Scott, Roussel, Yann, Ciapaite, Jolita, van Roermund, Carlo WT, Kernohan, Kristin D, Kosuta, Ceres, Ban, Kevin, Ito, Yoko, McBride, Skye, Al-Thihli, Khalid, Abdelrahim, Rana A, Koul, Roshan, Al Futaisi, Amna, Haaxma, Charlotte A, Olson, Heather, Sigurdardottir, Laufey Yr, Arnold, Georgianne L, Gerkes, Erica H, Boon, M, Heiner-Fokkema, M Rebecca, Noble, Sandra, Bosma, Marjolein, Jans, Judith, Koolen, David A, Kamsteeg, Erik-Jan, Drögemöller, Britt, Ross, Colin J, Majewski, Jacek, Cho, Megan T, Begtrup, Amber, Wasserman, Wyeth W, Bui, Tuan, Brimble, Elise, Violante, Sara, Houten, Sander M, Wevers, Ron A, van Faassen, Martijn, Kema, Ido P, Lepage, Nathalie, Lines, Matthew A, Dyment, David A, Wanders, Ronald JA, Verhoeven-Duif, Nanda, Ekker, Marc, Boycott, Kym M, Friedman, Jan M, Pena, Izabella A, van Karnebeek, Clara DM

المصدر: Brain. 142(3)

مصطلحات موضوعية: Epilepsy, Neurosciences, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Disease Models, Animal, Female, HEK293 Cells, Humans, Male, Phenotype, Proteins, Pyridoxal Phosphate, Pyridoxine, Vitamin B 6, Vitamin B 6 Deficiency, Zebrafish, PLPBP, PROSC, epilepsy, pyridoxine, vitamin B6-responsive epilepsy, Care4Rare Canada Consortium, PLPBP, PROSC, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/235891bk

المؤلفون: McCormack, Mark, Gui, Hongsheng, Ingason, Andrés, Speed, Doug, Wright, Galen E B, Zhang, Eunice J., Secolin, Rodrigo, Yasuda, Clarissa, Kwok, Maxwell, Wolking, Stefan, Becker, Felicitas, Rau, Sarah, Avbersek, Andreja, Heggeli, Kristin, Leu, Costin, Depondt, Chantal, Sills, Graeme J., Marson, Anthony G., Auce, Pauls, Brodie, Martin J., Francis, Ben, Johnson, Michael R., Koeleman, Bobby P C, Striano, Pasquale, Coppola, Antonietta, Zara, Federico, Kunz, Wolfram S., Sander, Josemir W., Lerche, Holger, Klein, Karl Martin, Weckhuysen, Sarah, Krenn, Martin, Gudmundsson, Lárus J, Stefánsson, Kári, Krause, Roland, Shear, Neil, Ross, Colin J D, Delanty, Norman, Pirmohamed, Munir, Carleton, Bruce C., Cendes, Fernando, Lopes-Cendes, Iscia, Liao, Wei-Ping, O'Brien, Terence J., Sisodiya, Sanjay M., Cherny, Stacey, Kwan, Patrick, Baum, Larry, Cavalleri, Gianpiero L., International League Against Epilepsy Consortium on Complex Epilepsies, Bisulli, Francesca

المساهمون: Mccormack, Mark, Gui, Hongsheng, Ingason, André, Speed, Doug, Wright, Galen E B, Zhang, Eunice J, Secolin, Rodrigo, Yasuda, Clarissa, Kwok, Maxwell, Wolking, Stefan, Becker, Felicita, Rau, Sarah, Avbersek, Andreja, Heggeli, Kristin, Leu, Costin, Depondt, Chantal, Sills, Graeme J, Marson, Anthony G, Auce, Paul, Brodie, Martin J, Francis, Ben, Johnson, Michael R, Koeleman, Bobby P C, Striano, Pasquale, Coppola, Antonietta, Zara, Federico, Kunz, Wolfram S, Sander, Josemir W, Lerche, Holger, Klein, Karl Martin, Weckhuysen, Sarah, Krenn, Martin, Gudmundsson, Lárus J, Stefánsson, Kári, Krause, Roland, Shear, Neil, Ross, Colin J D, Delanty, Norman, Pirmohamed, Munir, Carleton, Bruce C, Cendes, Fernando, Lopes-Cendes, Iscia, Liao, Wei-Ping, O'Brien, Terence J, Sisodiya, Sanjay M, Cherny, Stacey, Kwan, Patrick, Baum, Larry, Cavalleri, Gianpiero L, EPIGEN Consortium, Canadian Pharmacogenomics Network, for the EpiPGX Consortium, Int League Epilepsy Consortium, Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, Wellcome Trust, Imperial College Healthcare NHS Trust- BRC Funding, Commission of the European Communities, McCormack, Mark, Zhang, Eunice J., Sills, Graeme J., Marson, Anthony G., Brodie, Martin J., Johnson, Michael R., Kunz, Wolfram S., Sander, Josemir W., Carleton, Bruce C., O'Brien, Terence J., Sisodiya, Sanjay M., Cavalleri, Gianpiero L., International League Against Epilepsy Consortium on Complex Epilepsie, Bisulli, Francesca

المصدر: Neurology
Neurology, 91 (16
Møller, R S & EPIGEN Consortium; 2018, ' Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients ', Neurology, vol. 90, no. 4, pp. e332-e341 . https://doi.org/10.1212/WNL.0000000000004853
Neurology. United States (2017).
E341
E332

مصطلحات موضوعية: 0301 basic medicine, Linkage disequilibrium, Pharmacogenomic Variants, Neurology [D14] [Human health sciences], Genome-wide association study, HLA-A-ASTERISK-3101, Linkage Disequilibrium, 0302 clinical medicine, Flogaveiki, INDUCED HYPERSENSITIVITY REACTIONS, Medicine, genetics, POPULATION, education.field_of_study, Public health, Taugavísindi, 3. Good health, Carbamazepine, Neurology, Factor H, Complement Factor H, Association studies in genetics, Lýðheilsa, Anticonvulsants, Drug Eruptions, Erfðarannsóknir, Life Sciences & Biomedicine, STEVENS-JOHNSON-SYNDROME, Population, Antiepileptic drugs, adverse drug reaction, Clinical Neurology, Mutation, Missense, Human leukocyte antigen, Complement factor I, Case control studies, White People, Article, 03 medical and health sciences, Asian People, RISK-FACTOR, Seizures, Genetic variation, Humans, GENOME-WIDE ASSOCIATION, education, METAANALYSIS, Retrospective Studies, Science & Technology, Neurology & Neurosurgery, Neurologie [D14] [Sciences de la santé humaine], Epilepsy, HLA-A Antigens, business.industry, Genetic Variation, Correction, CUTANEOUS ADVERSE-REACTIONS, 1103 Clinical Sciences, Généralités, 1702 Cognitive Science, GENOTYPES, 030104 developmental biology, Apolipoproteins, Case-Control Studies, Phenytoin, LAMOTRIGINE, Immunology, Alternative complement pathway, epilepsy, Neurosciences & Neurology, Neurology (clinical), Human medicine, 1109 Neurosciences, business, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: application/pdf; 1 full-text file(s): application/pdf; ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11a6f66cf05d199b6df8b570ce06c15d
http://livrepository.liverpool.ac.uk/3009749/1/e332.full.pdf

المؤلفون: O'Byrne, James J., Tarailo-Graovac, Maja, Ghani, Aisha, Champion, Michael, Deshpande, Charu, Dursun, Ali, Ozgul, Riza K., Freisinger, Peter, Garber, Ian, Haack, Tobias B., Horvath, Rita, Barić, Ivo, Husain, Ralf A., Kluijtmans, Leo A.J., Kotzaeridou, Urania, Morris, Andrew A., Ross, Colin J., Santra, Saikat, Smeitink, Jan, Tarnopolsky, Mark, Wortmann, Saskia B., Mayr, Johannes A., Brunner-Krainz, Michaela, Prokisch, Holger, Wasserman, Wyeth W., Wevers, Ron A., Engelke, Udo F., Rodenburg, Richard J., Ting, Teck Wah, McFarland, Robert, Taylor, Robert W., Salvarinova, Ramona, van Karnebeek, Clara D.M.

المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Cellular & Molecular Mechanisms, Paediatric Metabolic Diseases, Çocuk Sağlığı ve Hastalıkları

المصدر: Molecular Genetics and Metabolism
Molecular genetics and metabolism, 123(1), 28-42. Academic Press Inc.

مصطلحات موضوعية: Male, Mitochondrial Diseases, HCM, hypertrophic cardiomyopathy, Adolescent, Cardiomyopathy, Biopsy, OXPHOS, oxidative phosphorylation, Article, Oxidative Phosphorylation, Ketogenic diet, Lactic acidosis, Mitochondrial disease, Mitochondrial translation optimization 1, Oxidative Phosphorylation Defec, Humans, Child, Frameshift Mutation, ID, intellectual disability, GDD, global developmental delay, Infant, Newborn, Brain, Infant, RNA-Binding Proteins, Q-TOF, quadrupole time-of-flight, Cardiomyopathy, Hypertrophic, Oxidative Phosphorylation Defect, Child, Preschool, Hepatic Encephalopathy, MTO1, Mitochondrial tRNA Translation Optimization 1, Female, Carrier Proteins, MRI, magnetic resonance imaging, WES, whole exome sequencing, Metabolism, Inborn Errors

وصف الملف: application/pdf; text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d15361d9f0ba1ff8b22e3d3d2d6a717c
https://www.repository.cam.ac.uk/handle/1810/290338

المؤلفون: Tarailo-Graovac, Maja, Drögemöller, Britt I, Wasserman, Wyeth W, Ross, Colin J D, Van Den Ouweland, Ans M W, Darin, Niklas, Kollberg, Gittan, Van Karnebeek, Clara D M, Blomqvist, Maria

المساهمون: Clinical Genetics, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Cellular & Molecular Mechanisms, Paediatric Metabolic Diseases

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 12:28. BioMed Central Ltd.
Orphanet journal of rare diseases, 12(1). BioMed Central

مصطلحات موضوعية: Medicine(all), Male, Symporters, Research, Whole exome sequencing, Sialic Acid Storage Disease, Organic Anion Transporters, Exons, Fibroblasts, Polymerase Chain Reaction, Introns, N-Acetylneuraminic Acid, Salla disease, SLC17A5, Exome Sequencing, Transposon insertion, DNA Transposable Elements, Humans, Genetics(clinical), Pharmacology (medical), Skin

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::968b02d295762bd470fd26bb12096a7e
http://europepmc.org/articles/PMC5303239

المؤلفون: Lee, Jong W., Pussegoda, Kusala, Rassekh, Shahrad R., Monzon, Jose G., Liu, Geoffrey, Hwang, Soomi, Bhavsar, Amit P., Pritchard, Sheila, Ross, Colin J., Amstutz, Ursula, Carleton, Bruce C., Hayden, Michael R., MacLeod, Stuart, Smith, Anne, Brunham, Liam, Aminkeng, Folefac, Shear, Neil H., Koren, Gideon, Ito, Shinya, Madadi, Parvaz, Rieder, Michael J., Kim, Richard, Maher, Maurica, Flockhart, David

المصدر: Paediatrics Publications
Lee, Jong W; Pussegoda, Kusala; Rassekh, Rod S; Monzon, Jose G; Liu, Geoffrey; Hwang, Soomi; Bhavsar, Amit P; Pritchard, Sheila; Ross, Colin J; Carleton, Bruce C; Amstutz, Ursula (2016). Clinical Practice Recommendations For The Management And Prevention Of Cisplatin-Induced Hearing Loss Using Pharmacogenetic Markers. Therapeutic drug monitoring, 38(4), p. 1. Lippincott Williams & Wilkins 10.1097/FTD.0000000000000298 <http://dx.doi.org/10.1097/FTD.0000000000000298>

مصطلحات موضوعية: Genetic Markers, 0301 basic medicine, medicine.medical_specialty, Hearing loss, clinical practice recommendations, Alternative medicine, MEDLINE, cisplatin, Antineoplastic Agents, 610 Medicine & health, Context (language use), Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Pharmacology (medical), Hearing Loss, Intensive care medicine, hearing loss, Pharmacology, Cisplatin, Polymorphism, Genetic, pharmacogenetic testing, business.industry, Clinical Practice, 030104 developmental biology, ototoxicity, Pharmacogenetics, 030220 oncology & carcinogenesis, Pharmacogenomics, medicine.symptom, business, medicine.drug

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc4e9d8043b1bd6ec762e1846c12eb1f
https://ir.lib.uwo.ca/context/paedpub/article/2714/viewcontent/00007691_900000000_99186.pdf

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المؤلفون: O'Byrne, James J, Tarailo-Graovac, Maja, Ghani, Aisha, Champion, Michael, Deshpande, Charu, Dursun, Ali, Ozgul, Riza K, Freisinger, Peter, Garber, Ian, Haack, Tobias B, Horvath, Rita, Barić, Ivo, Husain, Ralf A, Kluijtmans, Leo AJ, Kotzaeridou, Urania, Morris, Andrew A, Ross, Colin J, Santra, Saikat, Smeitink, Jan, Tarnopolsky, Mark, Wortmann, Saskia B, Mayr, Johannes A, Brunner-Krainz, Michaela, Prokisch, Holger, Wasserman, Wyeth W, Wevers, Ron A, Engelke, Udo F, Rodenburg, Richard J, Ting, Teck Wah, McFarland, Robert, Taylor, Robert W, Salvarinova, Ramona, Van Karnebeek, Clara DM

مصطلحات موضوعية: Male, Mitochondrial Diseases, Adolescent, Cardiomyopathy, Lactic acidosis, Biopsy, Infant, Newborn, Brain, Infant, RNA-Binding Proteins, Ketogenic diet, Cardiomyopathy, Hypertrophic, Mitochondrial disease, Oxidative Phosphorylation, 3. Good health, Oxidative Phosphorylation Defect, Child, Preschool, Hepatic Encephalopathy, Humans, Female, Mitochondrial translation optimization 1, Carrier Proteins, Child, Frameshift Mutation, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c13e115b73b72511ca32e7be24c53581