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1دورية أكاديمية
المؤلفون: Kirsty McWalter, Ganka Douglas, Amanda Lindy, Jane Juusola, Paul Kruszka
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101046- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424001924Test; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المؤلفون: Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian
المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 2025-2035 (2022)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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3دورية أكاديمية
المؤلفون: Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M. H. F. Bongers, Arjan Bouman, Laura de Graaff – Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. De Geus, Johanna M. van Hagen, Philip R. Jansen, Jennifer Kerkhof, Anneke J. A. Kievit, Tjitske Kleefstra, Saskia M. Maas, Stella A. de Man, Haley McConkey, Wesley G. Patterson, Amy T. Dobson, Eloise J. Prijoles, Bekim Sadikovic, Raissa Relator, Roger E. Stevenson, Connie T. R. M. Stumpel, Malou Heijligers, Kyra E. Stuurman, Katharina Löhner, Shimriet Zeidler, Jennifer A. Lee, Amanda Lindy, Fanggeng Zou, Matthew L. Tedder, Lisenka E. L. M. Vissers, Bert B. A. de Vries
المصدر: Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2158-3188Test
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4دورية أكاديمية
المؤلفون: Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100499- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423004995Test; https://doaj.org/toc/2949-7744Test
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5دورية أكاديمية
المؤلفون: Zhiyu Liu, Herong Shi, Lindsey C Szymczak, Taner Aydin, Sijung Yun, Katharine Constas, Arielle Schaeffer, Sinthu Ranjan, Saad Kubba, Emad Alam, Devin E McMahon, Jingpeng He, Neta Shwartz, Chenxi Tian, Yevgeniy Plavskin, Amanda Lindy, Nimra Amir Dad, Sunny Sheth, Nirav M Amin, Stephanie Zimmerman, Dennis Liu, Erich M Schwarz, Harold Smith, Michael W Krause, Jun Liu
المصدر: PLoS Genetics, Vol 11, Iss 5, p e1005221 (2015)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4433240?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test
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6
المؤلفون: Logan C. Walker, Miguel de la Hoya, George A.R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T Parsons, Daffodil M Canson, Dana Bis-Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B Byrne, Tina Pesaran, Rachid Karam, Steven Harrison, Amanda B Spurdle
المصدر: medRxiv
مصطلحات موضوعية: Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1284c302fbe39e32460ed49914de2ed3Test
https://europepmc.org/articles/PMC9980257Test/ -
7
المؤلفون: Z. Ji, E. Fitch, N. Ghabra, J. Nishtha, Dianalee McKnight, Ingo Helbig, Amanda Lindy, Edward C. Cooper, N. Jairam, Alfred L. George, Sneha Adusumilli, F. Zou, Carlos G. Vanoye, Reshma R. Desai, Kimberly Helbig
المصدر: JCI Insight. 7
مصطلحات موضوعية: Genetics, education.field_of_study, Epilepsy, medicine.diagnostic_test, Retigabine, Population, Mutation, Missense, Heterologous, General Medicine, Biology, chemistry.chemical_compound, chemistry, Automated patch clamp, Potassium Channels, Voltage-Gated, Cell culture, medicine, Humans, KCNQ2 Potassium Channel, Missense mutation, education, Gene, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2a2b04e6b56b3728567dadde584236fTest
https://doi.org/10.1172/jci.insight.156314Test -
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المؤلفون: Matthew S. Lebo, Ahmad N. Abou Tayoun, Chao Wu, Mahdi Sarmady, Amanda Lindy, Dianalee McKnight, Perry Evans
المصدر: Genome Research. 29:1144-1151
مصطلحات موضوعية: Population, Mutation, Missense, Datasets as Topic, Method, Disease, Computational biology, Biology, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Genetic variation, Genetics, Humans, Missense mutation, Clinical significance, education, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, Epilepsy, Genetic Variation, ras Proteins, Cardiomyopathies, Classifier (UML), 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad2c83aa18dea5b59184a3a421ae0b49Test
https://doi.org/10.1101/gr.240994.118Test -
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المؤلفون: Eduardo Pérez-Palma, Joseph D. Symonds, Andreas Brunklaus, Dennis Lal, Amanda Lindy, Rikke S. Møller, Sameer M. Zuberi, Costin Leu, Dianalee McKnight, Javier A López-Rivera
المصدر: López-Rivera, J A, Pérez-Palma, E, Symonds, J, Lindy, A S, McKnight, D A, Leu, C, Zuberi, S, Brunklaus, A, Møller, R S & Lal, D 2020, ' A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants ', Brain : a journal of neurology, vol. 143, no. 4, pp. 1099-1105 . https://doi.org/10.1093/brain/awaa051Test
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Autism, CDKL5, Disease, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Rare Diseases, Epidemiology, Medicine, Humans, Genetics, Epilepsy, business.industry, Genetic heterogeneity, Incidence (epidemiology), Incidence, Genetic data, Genetic Variation, medicine.disease, 030104 developmental biology, Neurodevelopmental Disorders, Neurology (clinical), business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57fa59f8e1cb8b52a3dfd333d9e1dce5Test
https://findresearcher.sdu.dk:8443/ws/files/170280544/awaa051.pdfTest -
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المؤلفون: Anita Shanmugham, Courtney Downtain‐Pickersgill, Tracy Brandt, Dianalee McKnight, Elizabeth Butler, Gabriele Richard, Mary Beth Stosser, Kyle Retterer, Amanda Lindy
المصدر: Epilepsia. 59:1062-1071
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Oncology, medicine.medical_specialty, Adolescent, CDKL5, MECP2, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Internal medicine, medicine, Humans, Genetic Testing, Child, Gene, Genetic testing, Comparative Genomic Hybridization, medicine.diagnostic_test, business.industry, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Middle Aged, medicine.disease, 030104 developmental biology, Molecular Diagnostic Techniques, Neurology, Neurodevelopmental Disorders, Child, Preschool, Cohort, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, PRRT2, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::357a57a4392a383f756f691604583b24Test
https://doi.org/10.1111/epi.14074Test