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المؤلفون: Manju A Kurian, Rosemary Burgess, Yue-Hua Zhang, Shuyu Wang, Heather C. Mefford, Katja E. Boysen, Lynette G. Sadleir, Xiaoling Yang, Marina Trivisano, Amy McTague, Qi Zeng, Ingrid E. Scheffer, Renzo Guerrini, Nicola Specchio, Anne Rochtus, Annapurna Poduri, Deepak Gill, Kenneth A. Myers, Carla Marini
المصدر: Ann Neurol
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Pediatrics, medicine.medical_specialty, Microcephaly, Movement disorders, Adolescent, Article, Cohort Studies, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Seizures, ATP1A3, Humans, Medicine, Genetic Predisposition to Disease, Child, business.industry, BRAT1, Genetic heterogeneity, Infant, medicine.disease, Epileptic spasms, 030104 developmental biology, Neurology, Child, Preschool, Female, Neurology (clinical), medicine.symptom, business, Spasms, Infantile, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48326ba29d6802cf66d0057fc6d386eTest
https://doi.org/10.1002/ana.25619Test -
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المؤلفون: Orrin Devinsky, Samuel F. Berkovic, Catharine Freyer, Annapurna Poduri, Eric B. Geller, Amos D. Korczyn, Heidi E. Kirsch, Nathan B. Fountain, Rosemary Burgess, Jack M. Parent, Jocelyn F. Bautista, Susannah T. Bellows, Robert C. Knowlton, David Goldstein, Dennis J. Dlugos, Heather C Mefford, Anthony G Marson, Mike Smith, Sabrina Cristofaro, Erin L. Heinzen, Bassel Abou-Khalil, Michael P. Epstein, Douglas E. Crompton, Eileen P.G. Vining, Kevin McKenna, Steven Petrou, Anu Venkat, Eric H. Kossoff, Gretchen Von Allmen, Sheryl R. Haut, Ruben Kuzniecky, Juliann M. Paolicchi, Colin A Ellis, Rani K. Singh, Simon Glynn, Daniel H. Lowenstein, Liu Lin Thio, Lynette G. Sadleir, Rebecca Loeb, Norman Delanty, Terence J. O'Brien, Paul V. Motika, Peter Widdess-Walsh, Sara Kivity, Gregory D. Cascino, Slavé Petrovski, Ruth Ottman, Micheline Gravel, Andrew S. Allen, Jerry J. Shih, Ingrid E. Scheffer, Joseph I Sirven, William O. Pickrell, Tracy A. Glauser, Judith L.Z. Weisenberg, Judith Bluvstein, Zaid Afawi, Phil Smith, Kevin F. Haas, Mark McCormack, Hadassa Goldberg-Stern, Sarah Paterson, Melodie R. Winawer, Mark I. Rees, Saul A. Mullen, Patrick Cossette, Rhys H. Thomas
المصدر: Epilepsia
مصطلحات موضوعية: Male, 0301 basic medicine, Concordance, Electroencephalography, Article, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Humans, Medical history, Generalized epilepsy, medicine.diagnostic_test, Seizure types, business.industry, Family aggregation, medicine.disease, Latent class model, Pedigree, Phenotype, 030104 developmental biology, Neurology, Latent Class Analysis, Female, Neurology (clinical), business, Epileptic Syndromes, 030217 neurology & neurosurgery, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be0a227c5e6f4209ee0d125e80b4851Test
https://doi.org/10.1111/epi.16354Test -
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المؤلفون: Mark F. Bennett, Michael S. Hildebrand, Sayaka Kayumi, Mark A. Corbett, Sachin Gupta, Zimeng Ye, Michael Krivanek, Rosemary Burgess, Olivia J. Henry, John A. Damiano, Amber Boys, Jozef Gécz, Melanie Bahlo, Ingrid E. Scheffer, Samuel F. Berkovic
المصدر: Neurology: Genetics
article-version (Version of Record) 3مصطلحات موضوعية: Neurology (clinical), Article, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bbbddd570cd9dcf54fd7c0a98e4d56dTest
https://doi.org/10.1212/nxg.0000000000000652Test -
4Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
المؤلفون: Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L. Heinzen, Ryan S. Dhindsa, Kate E. Stanley, Gianpiero L. Cavalleri, Hakon Hakonarson, Ingo Helbig, Roland Krause, Patrick May, Sarah Weckhuysen, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Patrick Kwan, Anthony G. Marson, Randy Stewart, Chantal Depondt, Dennis J. Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Kevin McKenna, Brigid M. Regan, Susannah T. Bellows, Costin Leu, Caitlin A. Bennett, Esther M.C. Johns, Alexandra Macdonald, Hannah Shilling, Rosemary Burgess, Dorien Weckhuysen, Melanie Bahlo, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Tara R. Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas S. Papacostas, Ioanna Kousiappa, George A. Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Wolfram S. Kunz, Gábor Zsurka, Christian E. Elger, Jürgen Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller-Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Christian Hengsbach, Sarah Rau, Ana F. Maisch, Bernhard J. Steinhoff, Andreas Schulze-Bonhage, Susanne Schubert-Bast, Herbert Schreiber, Ingo Borggräfe, Christoph J. Schankin, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Dieter Dennig, Rene Madeleyn, Reetta Kälviäinen, Pia Auvinen, Anni Saarela, Tarja Linnankivi, Anna-Elina Lehesjoki, Mark I. Rees, Seo-Kyung Chung, William O. Pickrell, Robert Powell, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Larry W. Baum, Pak C. Sham, Stacey S. Cherny, Colin H.T. Lui, Nina Barišić, Norman Delanty, Colin P. Doherty, Arif Shukralla, Mark McCormack, Hany El-Naggar, Laura Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Federico Zara, Michele Iacomino, Francesca Madia, Maria Stella Vari, Maria Margherita Mancardi, Vincenzo Salpietro, Francesca Bisulli, Paolo Tinuper, Laura Licchetta, Tommaso Pippucci, Carlotta Stipa, Raffaella Minardi, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carla Marini, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Birute Tumiene, Lynette G. Sadleir, Chontelle King, Emily Mountier, S. Hande Caglayan, Mutluay Arslan, Zuhal Yapıcı, Uluc Yis, Pınar Topaloglu, Bulent Kara, Dilsad Turkdogan, Aslı Gundogdu-Eken, Nerses Bebek, Sibel Uğur-İşeri, Betül Baykan, Barış Salman, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, Çiğdem Özkara, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jacqueline A. French, Steven Schachter, Ruben I. Kuzniecky, Orrin Devinsky, Manu Hegde, Pouya Khankhanian, Katherine L. Helbig, Colin A. Ellis, Gianfranco Spalletta, Fabrizio Piras, Federica Piras, Tommaso Gili, Valentina Ciullo, Andreas Reif, Andrew McQuillin, Nick Bass, Andrew McIntosh, Douglas Blackwood, Mandy Johnstone, Aarno Palotie, Michele T. Pato, Carlos N. Pato, Evelyn J. Bromet, Celia Barreto Carvalho, Eric D. Achtyes, Maria Helena Azevedo, Roman Kotov, Douglas S. Lehrer, Dolores Malaspina, Stephen R. Marder, Helena Medeiros, Christopher P. Morley, Diana O. Perkins, Janet L. Sobell, Peter F. Buckley, Fabio Macciardi, Mark H. Rapaport, James A. Knowles, Ayman H. Fanous, Steven A. McCarroll, Namrata Gupta, Stacey B. Gabriel, Mark J. Daly, Eric S. Lander, Daniel H. Lowenstein, David B. Goldstein, Holger Lerche, Samuel F. Berkovic, Benjamin M. Neale
المساهمون: Wellcome Trust, Department of Health, Institute of Neurology, UCL, Imperial College Healthcare NHS Trust- BRC Funding, Commission of the European Communities, Medical Research Council (MRC), Feng Y.-C.A., Howrigan D.P., Abbott L.E., Tashman K., Cerrato F., Singh T., Heyne H., Byrnes A., Churchhouse C., Watts N., Solomonson M., Lal D., Heinzen E.L., Dhindsa R.S., Stanley K.E., Cavalleri G.L., Hakonarson H., Helbig I., Krause R., May P., Weckhuysen S., Petrovski S., Kamalakaran S., Sisodiya S.M., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Kwan P., Marson A.G., Stewart R., Depondt C., Dlugos D.J., Scheffer I.E., Striano P., Freyer C., McKenna K., Regan B.M., Bellows S.T., Leu C., Bennett C.A., Johns E.M.C., Macdonald A., Shilling H., Burgess R., Weckhuysen D., Bahlo M., O'Brien T.J., Todaro M., Stamberger H., Andrade D.M., Sadoway T.R., Mo K., Krestel H., Gallati S., Papacostas S.S., Kousiappa I., Tanteles G.A., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K.M., Rosenow F., Reif P.S., Knake S., Kunz W.S., Zsurka G., Elger C.E., Bauer J., Rademacher M., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S., Stephani U., Afawi Z., Korczyn A.D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J.R., Krey I., Weber Y.G., Wolking S., Becker F., Hengsbach C., Rau S., Maisch A.F., Steinhoff B.J., Schulze-Bonhage A., Schubert-Bast S., Schreiber H., Borggrafe I., Schankin C.J., Mayer T., Korinthenberg R., Brockmann K., Dennig D., Madeleyn R., Kalviainen R., Auvinen P., Saarela A., Linnankivi T., Lehesjoki A.-E., Rees M.I., Chung S.-K., Pickrell W.O., Powell R., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M.R., Auce P., Sills G.J., Baum L.W., Sham P.C., Cherny S.S., Lui C.H.T., Barisic N., Delanty N., Doherty C.P., Shukralla A., McCormack M., El-Naggar H., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Zara F., Iacomino M., Madia F., Vari M.S., Mancardi M.M., Salpietro V., Bisulli F., Tinuper P., Licchetta L., Pippucci T., Stipa C., Minardi R., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Marini C., Suzuki T., Inoue Y., Yamakawa K., Tumiene B., Sadleir L.G., King C., Mountier E., Caglayan S.H., Arslan M., Yapici Z., Yis U., Topaloglu P., Kara B., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Poduri A., Shiedley B.R., Shain C., Buono R.J., Ferraro T.N., Sperling M.R., Lo W., Privitera M., French J.A., Schachter S., Kuzniecky R.I., Devinsky O., Hegde M., Khankhanian P., Helbig K.L., Ellis C.A., Spalletta G., Piras F., Gili T., Ciullo V., Reif A., McQuillin A., Bass N., McIntosh A., Blackwood D., Johnstone M., Palotie A., Pato M.T., Pato C.N., Bromet E.J., Carvalho C.B., Achtyes E.D., Azevedo M.H., Kotov R., Lehrer D.S., Malaspina D., Marder S.R., Medeiros H., Morley C.P., Perkins D.O., Sobell J.L., Buckley P.F., Macciardi F., Rapaport M.H., Knowles J.A., Fanous A.H., McCarroll S.A., Gupta N., Gabriel S.B., Daly M.J., Lander E.S., Lowenstein D.H., Goldstein D.B., Lerche H., Berkovic S.F., Neale B.M., Epi25 Collaborative, YÜCESAN, EMRAH, Institute for Molecular Medicine Finland, Children's Hospital, HUS Children and Adolescents, Department of Medical and Clinical Genetics, University Management, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders
المصدر: American journal of human genetics (Online) 105 (2019): 267–282. doi:10.1016/j.ajhg.2019.05.020
info:cnr-pdr/source/autori:Feng Y.-C.A.; Howrigan D.P.; Abbott L.E.; Tashman K.; Cerrato F.; Singh T.; Heyne H.; Byrnes A.; Churchhouse C.; Watts N.; Solomonson M.; Lal D.; Heinzen E.L.; Dhindsa R.S.; Stanley K.E.; Cavalleri G.L.; Hakonarson H.; Helbig I.; Krause R.; May P.; Weckhuysen S.; Petrovski S.; Kamalakaran S.; Sisodiya S.M.; Cossette P.; Cotsapas C.; De Jonghe P.; Dixon-Salazar T.; Guerrini R.; Kwan P.; Marson A.G.; Stewart R.; Depondt C.; Dlugos D.J.; Scheffer I.E.; Striano P.; Freyer C.; McKenna K.; Regan B.M.; Bellows S.T.; Leu C.; Bennett C.A.; Johns E.M.C.; Macdonald A.; Shilling H.; Burgess R.; Weckhuysen D.; Bahlo M.; O'Brien T.J.; Todaro M.; Stamberger H.; Andrade D.M.; Sadoway T.R.; Mo K.; Krestel H.; Gallati S.; Papacostas S.S.; Kousiappa I.; Tanteles G.A.; Sterbova K.; Vlckova M.; Sedlackova L.; Lassuthova P.; Klein K.M.; Rosenow F.; Reif P.S.; Knake S.; Kunz W.S.; Zsurka G.; Elger C.E.; Bauer J.; Rademacher M.; Pendziwiat M.; Muhle H.; Rademacher A.; van Baalen A.; von Spiczak S.; Stephani U.; Afawi Z.; Korczyn A.D.; Kanaan M.; Canavati C.; Kurlemann G.; Muller-Schluter K.; Kluger G.; Hausler M.; Blatt I.; Lemke J.R.; Krey I.; Weber Y.G.; Wolking S.; Becker F.; Hengsbach C.; Rau S.; Maisch A.F.; Steinhoff B.J.; Schulze-Bonhage A.; Schubert-Bast S.; Schreiber H.; Borggrafe I.; Schankin C.J.; Mayer T.; Korinthenberg R.; Brockmann K.; Dennig D.; Madeleyn R.; Kalviainen R.; Auvinen P.; Saarela A.; Linnankivi T.; Lehesjoki A.-E.; Rees M.I.; Chung S.-K.; Pickrell W.O.; Powell R.; Schneider N.; Balestrini S.; Zagaglia S.; Braatz V.; Johnson M.R.; Auce P.; Sills G.J.; Baum L.W.; Sham P.C.; Cherny S.S.; Lui C.H.T.; Barisic N.; Delanty N.; Doherty C.P.; Shukralla A.; McCormack M.; El-Naggar H.; Canafoglia L.; Franceschetti S.; Castellotti B.; Granata T.; Zara F.; Iacomino M.; Madia F.; Vari M.S.; Mancardi M.M.; Salpietro V.; Bisulli F.; Tinuper P.; Licchetta L.; Pippucci T.; Stipa C.; Minardi R.; Gambardella A.; Labate A.; Annesi G.; Manna L.; Gagliardi M.; Parrini E.; Mei D.; Vetro A.; Bianchini C.; Montomoli M.; Doccini V.; Marini C.; Suzuki T.; Inoue Y.; Yamakawa K.; Tumiene B.; Sadleir L.G.; King C.; Mountier E.; Caglayan S.H.; Arslan M.; Yapici Z.; Yis U.; Topaloglu P.; Kara B.; Turkdogan D.; Gundogdu-Eken A.; Bebek N.; Ugur-Iseri S.; Baykan B.; Salman B.; Haryanyan G.; Yucesan E.; Kesim Y.; Ozkara C.; Poduri A.; Shiedley B.R.; Shain C.; Buono R.J.; Ferraro T.N.; Sperling M.R.; Lo W.; Privitera M.; French J.A.; Schachter S.; Kuzniecky R.I.; Devinsky O.; Hegde M.; Khankhanian P.; Helbig K.L.; Ellis C.A.; Spalletta G.; Piras F.; Piras F.; Gili T.; Ciullo V.; Reif A.; McQuillin A.; Bass N.; McIntosh A.; Blackwood D.; Johnstone M.; Palotie A.; Pato M.T.; Pato C.N.; Bromet E.J.; Carvalho C.B.; Achtyes E.D.; Azevedo M.H.; Kotov R.; Lehrer D.S.; Malaspina D.; Marder S.R.; Medeiros H.; Morley C.P.; Perkins D.O.; Sobell J.L.; Buckley P.F.; Macciardi F.; Rapaport M.H.; Knowles J.A.; Fanous A.H.; McCarroll S.A.; Gupta N.; Gabriel S.B.; Daly M.J.; Lander E.S.; Lowenstein D.H.; Goldstein D.B.; Lerche H.; Berkovic S.F.; Neale B.M./titolo:Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals/doi:10.1016%2Fj.ajhg.2019.05.020/rivista:American journal of human genetics (Online)/anno:2019/pagina_da:267/pagina_a:282/intervallo_pagine:267–282/volume:105
The American Journal of Human Genetics
The American journal of human genetics
American journal of human genetics, vol 105, iss 2مصطلحات موضوعية: s.berkovic@unimelb.edu.au [Epi25 Collaborative. Electronic address], 0301 basic medicine, GAMMA-2-SUBUNIT, burden analysi, DNA Mutational Analysis, PROTEIN, Neurodegenerative, VARIANTS, SUSCEPTIBILITY, Medical and Health Sciences, Epilepsy, 0302 clinical medicine, 2.1 Biological and endogenous factors, EPIDEMIOLOGY, Missense mutation, Exome, Aetiology, Genetics (clinical), Exome sequencing, 11 Medical and Health Sciences, seizures, GABRG2, Genetics, Genetics & Heredity, 0303 health sciences, biology, COMMON EPILEPSIES, 1184 Genetics, developmental biology, physiology, sequencing, Biological Sciences, Epi25 Collaborative, Phenotype, GENOME, epileptic encephalopathy, burden analysis, Neurological, Biotechnology, Genetic Markers, seizure, EEF1A2, Burden analysis, epilepsy, exome, Article, 03 medical and health sciences, Clinical Research, Exome Sequencing, Genetic variation, medicine, Humans, Genetic Predisposition to Disease, Gene, EPILEPTIC SEIZURES, METAANALYSIS, 030304 developmental biology, Human Genome, Neurosciences, Genetic Variation, 06 Biological Sciences, medicine.disease, Brain Disorders, 030104 developmental biology, Genetic marker, DE-NOVO MUTATIONS, Case-Control Studies, biology.protein, 3111 Biomedicine, Human medicine, 030217 neurology & neurosurgery
وصف الملف: STAMPA; pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9360b5c87633a8c7de20198388242224Test
https://cronfa.swan.ac.uk/Record/cronfa51398/Download/51398__15710__c52ca83e489c49e7a8d471c1ab7659ff.pdfTest -
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المؤلفون: Philippe Kestelyn, Bart P. Leroy, Ian D. Millar, Genevieve A. Wright, Andrew R. Webster, Jill E. Urquhart, Graeme C.M. Black, Ian M. Fearon, Peter de Nully Brown, Forbes D C Manson, Elfrida De Baere, Rosemary Burgess, Graham E. Holder, Anthony G. Robson
المصدر: The American Journal of Human Genetics. 82(1):19-31
مصطلحات موضوعية: Biallelic Mutation, Adult, Male, Retinal Disorder, genetic structures, Adolescent, Molecular Sequence Data, Mutation, Missense, Genes, Recessive, Vitelliform macular dystrophy, Biology, medicine.disease_cause, Transfection, Article, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Retinal Diseases, Chloride Channels, medicine, Genetics, Missense mutation, Humans, Genetics(clinical), Amino Acid Sequence, Allele, Bestrophins, Child, Eye Proteins, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, medicine.disease, eye diseases, Bestrophin 1, Codon, Nonsense, Child, Preschool, 030221 ophthalmology & optometry, biology.protein, Female, sense organs, Autosomal recessive bestrophinopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dc7ac0ab455200eb53118fbb8c4e8feTest
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6
المؤلفون: Steven Petrou, Paul A. Adlard, Susannah T. Bellows, Christopher A. Reid, Arvid Suls, A. Marie Phillips, Verena C. Wimmer, Katia Hardies, Sarah Weckhuysen, Samuel F. Berkovic, John A. Damiano, Rik Hendrickx, Rosemary Burgess, Ingrid E. Scheffer, Michael S. Hildebrand, Jacinta M McMahon, Peter De Jonghe, Saul A. Mullen
المصدر: Scientific Reports
Scientific reportsمصطلحات موضوعية: inorganic chemicals, Risk, medicine.medical_specialty, DNA Mutational Analysis, Molecular Sequence Data, Inheritance Patterns, Kaplan-Meier Estimate, medicine.disease_cause, Synaptic vesicle, Seizures, Febrile, Article, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Animals, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Generalized epilepsy, Cation Transport Proteins, 030304 developmental biology, Mice, Knockout, 0303 health sciences, Mutation, Multidisciplinary, business.industry, Sodium channel, Glutamate receptor, Transporter, Sequence Analysis, DNA, medicine.disease, Transport protein, Pedigree, Rats, Zinc, Endocrinology, Anesthesia, Case-Control Studies, business, Engineering sciences. Technology, Sequence Alignment, 030217 neurology & neurosurgery, Homeostasis
وصف الملف: pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5725a16bf569d1690c2cbd45957f2ab7Test
https://pubmed.ncbi.nlm.nih.gov/26647834Test -
7Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa
المؤلفون: Neil R. A. Parry, James O'Sullivan, Ian D. Millar, Jill E. Urquhart, Susan M. Downes, Geoffrey J. Maher, Alice E. Davidson, Andrew J. Lotery, Rosemary Burgess-Mullan, Martin McKibbin, Graeme C.M. Black, Peter de Nully Brown, Forbes D C Manson, Samuel G. Jacobson, Yusrah Shweikh
المصدر: American journal of human genetics. 85(5)
مصطلحات موضوعية: Male, Bestrophins, Genetic Linkage, Retinal Pigment Epithelium, Kidney, 0302 clinical medicine, Protein Isoforms, Genetics(clinical), Conserved Sequence, Genetics (clinical), Cellular localization, Genes, Dominant, Genetics, 0303 health sciences, biology, Homozygote, Exons, Pedigree, 3. Good health, medicine.anatomical_structure, Female, Retinitis Pigmentosa, Retinal Dystrophies, Autosomal recessive bestrophinopathy, Molecular Sequence Data, Mutation, Missense, Genes, Recessive, Vitelliform macular dystrophy, Polymorphism, Single Nucleotide, Article, Cell Line, Nuclear Family, 03 medical and health sciences, Chloride Channels, Retinitis pigmentosa, medicine, Humans, Amino Acid Sequence, Eye Proteins, 030304 developmental biology, Retinal pigment epithelium, Sequence Homology, Amino Acid, Chromosomes, Human, Pair 11, medicine.disease, Molecular biology, eye diseases, Bestrophin 1, 030221 ophthalmology & optometry, biology.protein, sense organs, Lod Score
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b957e56dee6a6402ef92cb292806165aTest
http://ora.ox.ac.uk/objects/uuid:0e9114cd-688d-4ce0-99ce-9d5d76db9767Test