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1دورية أكاديمية
المؤلفون: Rebecca Nakles-Taylor, Elinette Albino, David Tsao, Rebecca Chen, Camille Nery, Izabela Karbassi, Arlene Buller-Burckle
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100434- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S294977442300434XTest; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100558- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423005587Test; https://doaj.org/toc/2949-7744Test
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المؤلفون: Vikas Pejaver, Alicia B. Byrne, Bing-Jian Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin, Anne O’Donnell-Luria, Steven M. Harrison, Sean V. Tavtigian, Marc S. Greenblatt, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner, Ahmad A. Tayoun, Jonathan S. Berg, Garry R. Cutting, Sian Ellard, Peter Kang, Izabela Karbassi, Jessica Mester, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Scott Topper
المصدر: The American Journal of Human Genetics. 109:2163-2177
مصطلحات موضوعية: Consensus, Virulence, Calibration, Genetics, Humans, Educational Status, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63d921f44375e47e5baccb6ef134edc1Test
https://doi.org/10.1016/j.ajhg.2022.10.013Test -
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المؤلفون: Katelynn Beattie, Lindsey Mighion, Linyan Meng, Maria Helgeson, Izabela Karbassi, Dianalee A. McKnight, John Chrisodoulou, Jeffrey L. Neul, Ping Fang, Hope Bonin, Michael J. Friez, Rahul Krishnaraj, Alan K. Percy, Huda Y. Zoghbi, Soma Das, Thierry Bienvenu, Simon C Ramsden, Lora Jh Bean
المصدر: Human Mutation. 43:1097-1113
مصطلحات موضوعية: Genome, Human, Interpretation (philosophy), CDKL5, Genetic Variation, Pilot Projects, Rett syndrome, Pitt–Hopkins syndrome, Computational biology, Biology, medicine.disease, MECP2, FOXG1, Angelman syndrome, Genetics, medicine, Humans, Genetic Testing, sense organs, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4614de9d1107b66817f1df37eebbc73Test
https://doi.org/10.1002/humu.24302Test -
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المؤلفون: Eliana Marisa Ramos, Mochtar Pribadi, Matthew Gallen, Giovanni Coppola, Alison Bright, Meagan Krasner, Whitney Dodge, Izabela Karbassi, Jennifer S. Yokoyama, Marc Meservey, Joseph Higgins, Bruce L. Miller, Suzee E. Lee, Natasha Z.R. Steele, Anna Karydas, Khalida Liaquat, Jamie Fong, Katherine P. Rankin, Luke W. Bonham, Carol C Hoffman
المصدر: Advances in Genomics and Genetics. 8:23-33
مصطلحات موضوعية: Genetics, 0303 health sciences, medicine.medical_specialty, Genomics, Frontotemporal lobar degeneration, Biology, medicine.disease, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, C9orf72, Cohort, medicine, General Earth and Planetary Sciences, Dementia, Medical genetics, Allele, 030217 neurology & neurosurgery, 030304 developmental biology, General Environmental Science, Frontotemporal dementia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bcfdf822c70c7f7e3c999b210c0ee36fTest
https://doi.org/10.2147/agg.s164047Test -
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المؤلفون: Gwenaëlle Collod-Béroud, Narasimhan Nagan, Christine Toulas, Marcia Eisenberg, Crystal M. Buell, Dominique Stoppa-Lyonnet, Stanley Letovsky, Hagay Sobol, Camille R. Nery, Céline Garrec, David Salgado, Corey D. Braastad, Danièle Muller, Charles M. Strom, Ghadi Rai, Olga M. Sinilnikova, Paul Vilquin, Angela Love, Christophe Béroud, Sandrine M. Caputo, Olivia Beaudoux, Yves-Jean Bignon, Florence Coulet, Myriam Bronner, Izabela Karbassi, Sarab Lizard, Dominique Vaur, Nicolas Derive, Brigitte Bressac-de Paillerets, Françoise Révillion, Edwin Trautman, Christina DiVincenzo, Katelyn S. Weymouth, Nicolas Sevenet, Christopher Elzinga, Alecia Willis, Claude Houdayer
المصدر: Human Mutation. 37:1318-1328
مصطلحات موضوعية: 0301 basic medicine, Genetics, endocrine system diseases, Data curation, MEDLINE, Computational biology, Human genetic variation, Biology, medicine.disease, 3. Good health, Data sharing, 03 medical and health sciences, 030104 developmental biology, Resource (project management), Breast cancer, Mutation (genetic algorithm), medicine, skin and connective tissue diseases, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::404371296808ebd168499800b81852e1Test
https://doi.org/10.1002/humu.23113Test -
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المؤلفون: Khalida Liaquat, Izabela Karbassi, Matthew C. Evans, Sat Dev Batish, James R. Lupski, Jeremiah R Jones, Malgorzata Jaremko, Michelle York, Crystal M Bishop, Corey D. Braastad, Christopher Elzinga, Adam C. Medeiros, Carol Hoffman, Zhenyuan Wang, Joseph Higgins, Christina DiVincenzo
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: Genetics, Sanger sequencing, Mutation, peripheral neuropathy, medicine.diagnostic_test, Original Articles, Charcot–Marie–Tooth disease, Biology, medicine.disease_cause, molecular epidemiology, Molecular biology, genetic testing, Frameshift mutation, symbols.namesake, symbols, medicine, Missense mutation, Multiplex ligation-dependent probe amplification, high-throughput nucleotide sequencing, Allele, Molecular Biology, Gene, Genetics (clinical), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::328d58bde16897d10ff30c4bd94f7e27Test
https://doi.org/10.1002/mgg3.106Test -
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المؤلفون: Rebecca Moore, Damian P. Alagia, Izabela Karbassi, Matthew C. Evans, Michele McCarthy, Felicitas Lacbawan
المصدر: Obstetrics & Gynecology. 133:147S-147S
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, medicine, Obstetrics and Gynecology, Spinal muscular atrophy, medicine.disease, business, Allele frequency, Test (assessment)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9465e3f7e7e8604e3c6f7eb0a982fab9Test
https://doi.org/10.1097/01.aog.0000559296.51941.19Test -
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المؤلفون: Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Izabela Karbassi, Sat Dev Batish, Johan T. den Dunnen, Agnies van Eeghen, Elizabeth Thiele, Karin Mayer, Kira Dies, Li Wen, Catherine Thompson, Steven P. Sparagana, Peter Davies, Cora Aalfs, Ans van den Ouweland, Dicky Halley, Mark Nellist
المساهمون: Human Genetics, Clinical Genetics
المصدر: Human mutation, 33(3), 476-479. Wiley-Liss Inc.
Human Mutation, 33(3), 476-479. Wiley-Liss Inc.
Human Mutation, 33(3), 476-479مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Tumor Suppressor Proteins, Immunoblotting, Mutation, Missense, hamartin, tuberous sclerosis complex, tuberin, Tuberous Sclerosis Complex 1 Protein, TSC2, TSC1, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, Genetics, Animals, Humans, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a3025a2f72edffa81e4eb089de47582Test
https://doi.org/10.1002/humu.22007Test -
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المؤلفون: Ian M. Campbell, Sung Sup Park, Soo Hyun Seo, Susanne Stemmler, John K. Fink, Nichole D. Hein, Marjorie Withers, Moon Woo Seong, Wendy E. Goodwin, Bo Yuan, Pawel Stankiewicz, Izabela Karbassi, Brett C. Baggett, Paolo Moretti, Christine R. Beck, Sat Dev Batish, James R. Lupski, María Jesús Sobrido, Philip M. Boone, Jennifer Scull, Christine J. Shaw, Andrés Ordóñez-Ugalde, Beatriz Quintáns
المصدر: RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)مصطلحات موضوعية: Spastin, DNA Copy Number Variations, Genotype, Recombinant Fusion Proteins, Alu element, Locus (genetics), Chimeric gene, Biology, Genome, Article, Exon, Alu Elements, Genetics, Humans, Protein Isoforms, Genetics(clinical), Allele, Cation Transport Proteins, Genetics (clinical), Cell Line, Transformed, Sequence Deletion, Adenosine Triphosphatases, Base Sequence, Spastic Paraplegia, Hereditary, Breakpoint, Sequence Analysis, DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6838397a4795f11e8e086339dd2d7b47Test
http://hdl.handle.net/20.500.11940/4512Test