نتائج البحث - "Elise Valkanas"

المساهمون: Arachchi, Harindra, Wojcik, Monica H, Weisburd, Benjamin, Jacobsen, Julius OB, Valkanas, Elise, Baxter, Samantha, Byrne, Alicia B, O'Donnell-Luria, Anne H, Haendel, Melilssa, Smedley, Damian, MacArthur, Daniel G, Philippakis, Anthony A, Rehm, Heidi L

المصدر: Human Mutation. 39:1827-1834

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baebb60df378eae33af2ad3a1204a8f7Test
https://doi.org/10.1002/humu.23655Test

8

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

المؤلفون: Stephanie Efthymiou, Julien Buratti, Farah Bibi, Omar Dabbagh, Perrine Charles, Julia Hoefele, Kristi J. Jones, Enrico Mingardo, Jeshurun C Kalanithy, Matias Wagner, Hessa S. Alsaif, Konrad Platzer, Henry Houlden, Jaya Punetha, Sandra T. Cooper, Jennifer E. Posey, Tikam Chand Dakal, Leigh B. Waddell, Holger Thiele, Elise Valkanas, Davut Pehlivan, Zeynep Coban Akdemir, Beth Hudson, Shahzad Haider, Haktan Bağış Erdem, Jawid M Fatih, Fowzan S. Alkuraya, Solveig Heide, Andreas Ziegler, Michelle Demos, Heiko Reutter, Paul R Mark, Dana Marafi, Vincenzo Salpietro, Steffen Syrbe, Meriel McEntagart, Delphine Héron, Ilaria Guella, Jennifer Burton, James R. Lupski, Natalia Dominik, Daniel G. MacArthur, Tipu Sultan, Wendy K. Chung, Annalisa Vetro, Ender Karaca, George E. Hoganson, Rhonda E. Schnur, Bhanupriya Dhabhai, Sarah A. O'Shea, Tadahiro Mitani, Volkan Okur, Emily C. Oates, Tobias T. Lindenberg, Renzo Guerrini, Benjamin Odermatt, Gabriel C. Dworschak, Öznur Yilmaz, Jill V. Hunter, Shalini N. Jhangiani, Boris Keren, Korbinian M. Riedhammer, Caroline Nava, Stanley Fahn, Reza Maroofian, Roy N. Alcalay

المصدر: Genetics in Medicine

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38e56db81ddbe17b5bcfd5001ed9ed19Test
https://pubmed.ncbi.nlm.nih.gov/34054129Test

9

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

مصطلحات موضوعية: Proband, Whole genome sequencing, Microarray, Additional diagnoses, Diagnostic test, Computational biology, Copy-number variation, Biology, Exome sequencing, DNA sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f585b72d7731ac11a0517720e6eb3459Test
https://doi.org/10.1101/2020.08.12.248526Test

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A structural variation reference for medical and population genetics

المؤلفون: Harold Z. Wang, Yii-Der Ida Chen, Elise Valkanas, Michael E. Talkowski, Kent D. Taylor, Xuefang Zhao, Henry J. Lin, Konrad J. Karczewski, Ryan L. Collins, Eric Banks, Benjamin M. Neale, Lauren Margolin, Christopher W. Whelan, Valentin Ruano-Rubio, Laura D. Gauthier, Stacey Gabriel, Harrison Brand, Namrata Gupta, Jessica Alföldi, Ruchi Munshi, Yongqing Huang, Daniel G. MacArthur, Laurent C. Francioli, Chad Nusbaum, Eric S. Lander, Mark J. Daly, Nicholas A. Watts, Anthony A. Philippakis, Matthew Solomonson, Sekar Kathiresan, Genome Aggregation Database Production Team, Wendy S. Post, Jack Fu, Alexander Baumann, Kristen M. Laricchia, Amit Khera, Ted Brookings, Anne H. O’Donnell-Luria, Jerome I. Rotter, Matthew R. Stone, Chelsea Lowther, Christine Stevens, Caroline N. Cusick, Ted Sharpe, Grace Tiao, Stephen S. Rich, Mark Walker

المساهمون: Tampere University, Clinical Medicine, Department of Clinical Chemistry, Centre of Excellence in Complex Disease Genetics, HUS Abdominal Center, Department of Medicine, Clinicum, Gastroenterologian yksikkö, Institute for Molecular Medicine Finland, HUS Psychiatry, Department of Psychiatry, Department of Public Health, Helsinki Institute of Life Science HiLIFE, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Samuli Olli Ripatti / Principal Investigator, Complex Disease Genetics, Biostatistics Helsinki, Biosciences, HUS Neurocenter, Department of Neurosciences, Neurologian yksikkö

المصدر: Nature, vol 581, iss 7809
Nature

مصطلحات موضوعية: 0301 basic medicine, Male, Genotyping Techniques, IMPACT, Population genetics, VARIANTS, Genome informatics, Genome, 0302 clinical medicine, Disease, Copy-number variation, education.field_of_study, Multidisciplinary, Continental Population Groups, REARRANGEMENTS, 1184 Genetics, developmental biology, physiology, Genome Aggregation Database Production Team, Genomics, Single Nucleotide, Reference Standards, Middle Aged, 3. Good health, GENOME, Female, Biotechnology, Human, General Science & Technology, Population, Computational biology, Biology, Article, Structural variation, 03 medical and health sciences, Genetic, Medical, Genetics, Humans, Genetic Testing, Polymorphism, education, Selection, COPY NUMBER VARIATION, Whole genome sequencing, Whole Genome Sequencing, DELETION, Racial Groups, Human Genome, Genetic Variation, Chromosome abnormality, EVOLUTION, Human genetics, 030104 developmental biology, Genome Aggregation Database Consortium, Mutation, PATTERNS, Generic health relevance, 3111 Biomedicine, 030217 neurology & neurosurgery

وصف الملف: application/pdf; fulltext

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5850f851436ab9954eeebae9e54903bTest
https://escholarship.org/uc/item/25h6t9dpTest

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