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1دورية أكاديمية
المؤلفون: Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
مصطلحات موضوعية: KCNK9 imprinting syndrome, TASK3 channel, Neurodevelopmental disorder, Electrophysiology, Computational protein modeling, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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المؤلفون: Wei Shen, Heidi L. Sellers, Lauren A. Choate, Mariam I. Stein, Pratyush P. Tandale, Jiayu Tan, Rohit Setlem, Yuta Sakai, Numrah Fadra, Carlos Sosa, Shawn P. McClelland, Sarah S. Barnett, Kristen J. Rasmussen, Cassandra K. Runke, Stephanie A. Smoley, Lori S. Tillmans, Cherisse A. Marcou, Ross A. Rowsey, Erik C. Thorland, Nicole J. Boczek, Hutton M. Kearney
المصدر: The Journal of Molecular Diagnostics.
مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d4701154a74f43b20056a60394394fe8Test
https://doi.org/10.1016/j.jmoldx.2023.04.001Test -
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المؤلفون: Cédric Le Caignec, Fiona Haslam McKenzie, Jozef Gecz, Erik C. Thorland, Michelle Ward, Sharron Townshend, Chris Troedson, Marybeth Hummel, Andre E. Minoche, Raman Kumar, Elizabeth E. Palmer, Rebecca Macintosh, Joris Andrieux, Mark J. Cowley, Olivier Pichon, Edwin P. Kirk, Anja Ravine, Bénédicte Demeer, Dale Wright, Marie Shaw, Ann M. E. Bye, Nicola Foulds, Lucinda Murray, Melanie Leffler, Rani Sachdev, Cassandra K. Runke, Renee Carroll, Bertrand Isidor, Urwah Nawaz, Michael Field, Salam Hadah Albarazi
المصدر: Am J Hum Genet
مصطلحات موضوعية: Male, Monocarboxylic Acid Transporters, Heterozygote, Adolescent, Ubiquitin-Protein Ligases, Gene Dosage, Mutation, Missense, Mothers, Nerve Tissue Proteins, Locus (genetics), Biology, Young Adult, X Chromosome Inactivation, Report, Intellectual Disability, Chromosome Duplication, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Missense mutation, Child, Gene, Skewed X-inactivation, Genetics (clinical), X chromosome, Hemizygote, Symporters, Australia, Middle Aged, medicine.disease, Phenotype, Pedigree, Child, Preschool, Face, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00f32c7a2dbf50567179c38d936df1ffTest
https://doi.org/10.1016/j.ajhg.2020.10.005Test -
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المؤلفون: John Herriges, Benjamin Hilton, Shulin Zhang, Laura K. Conlin, Bradley P. Coe, Erica F. Andersen, Erin Rooney Riggs, Justin Schleede, Brynn Levy, Erik C. Thorland, Vaidehi Jobanputra, Marsha Speevak, McKinsey L. Goodenberger, Prabakaran Paulraj, Cassandra K. Runke, Christa Lese Martin
المصدر: Cancer Genetics. :S1-S2
مصطلحات موضوعية: Genetics, Cancer Research, Copy-number variation, Biology, Molecular Biology, High penetrance
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::28c1bd3e64ad5d63943cab89b52da467Test
https://doi.org/10.1016/j.cancergen.2021.01.014Test -
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المؤلفون: Christa Lese Martin, Shulin Zhang, Justin Schleede, Bradley P. Coe, John Herriges, Erica F. Andersen, Prabakaran Paulraj, Benjamin Hilton, Brynn Levy, Laura K. Conlin, Vaidehi Jobanputra, Cassandra K. Runke
المصدر: Molecular Genetics and Metabolism. 132:S284
مصطلحات موضوعية: Genetics, Endocrinology, Endocrinology, Diabetes and Metabolism, Sub clinical, Copy-number variation, Biology, Molecular Biology, Biochemistry, Penetrance, Phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6f2aaa31113d2a674a3ccf36bb042ad4Test
https://doi.org/10.1016/s1096-7192Test(21)00523-0 -
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المؤلفون: Yajuan Liu, Allen N. Lamb, Jeanne Meck, Zoe K Lewis, Jennifer N. Sanmann, Linda Haglund-Hazy, Brian Bunke, Denae M. Golden, Christin D. Collins, Marwan K. Tayeh, Erica F. Andersen, Cassandra K. Runke, Dimitri J. Stavropoulos, Whitney Neufeld-Kaiser, Emma Strong, Guang Li, Yao Shan Fan, Meng Su, Andrew Merz, McKinsey L. Goodenberger, Tristan Nelson, Todd Ackley, Christa Lese Martin, Erik C. Thorland, Danijela Krgovic, Erin Rooney Riggs, Morag N. Collinson, Nadja Kokalj Vokac
المصدر: Hum Mutat
مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, Genome, Human, Genetic Variation, Subject (documents), Computational biology, Biology, Genome, Patient care, Article, 03 medical and health sciences, 030104 developmental biology, Databases, Genetic, Genetics, Humans, Copy-number variation, Haploinsufficiency, Genetics (clinical), Likely pathogenic, Data Curation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::472f4808747a9db5a43076253ef88a52Test
https://europepmc.org/articles/PMC7374944Test/ -
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المؤلفون: Cassandra K. Runke, Jennelle C. Hodge, Jennifer L. Hand
المصدر: Journal of the American Academy of Dermatology. 72:617-627
مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Ichthyosis, X-Linked, Microarray, Dermatology, Contiguous gene syndrome, medicine, Steroid sulfatase, Humans, Abnormalities, Multiple, Genetic Testing, Sequence Deletion, Skin, Chromosomes, Human, X, Incidental Findings, X-linked ichthyosis, Ichthyosis, business.industry, Medical record, Atopic dermatitis, Microarray Analysis, medicine.disease, Phenotype, Female, Steryl-Sulfatase, Histopathology, business, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::176a85a97c4082237545f3d0e356ba1aTest
https://doi.org/10.1016/j.jaad.2014.12.020Test -
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المؤلفون: Erik C. Thorland, Mohammed Al-Owain, J.W. Ellison, Cassandra K. Runke, Jennelle C. Hodge, Goran Cuturilo, Dusica Babovic-Vuksanovic
المصدر: Clinical Genetics. 89:109-114
مصطلحات موضوعية: 0301 basic medicine, medicine.diagnostic_test, Microarray, 030105 genetics & heredity, Biology, medicine.disease, Bioinformatics, Phenotype, 3. Good health, 03 medical and health sciences, Intellectual disability, Mutation (genetic algorithm), Genetics, medicine, In patient, Teratoma, Genetics (clinical), Currarino syndrome, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9f77444f6264de3504693463ed7b6fc3Test
https://doi.org/10.1111/cge.12572Test -
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المؤلفون: Glenn Palomaki, Umut Aypar, Laura Otto, Katie Stoll, Cassandra K. Runke, W. Edward Highsmith, Myra J. Wick, Marsha Michie, Richard R. Sharp, Natasha Bonhomme, Sandra Darilek, Megan Allyse, Rebecca Pabst, Mark E. Nunes, Ruth M. Farrell, Wayne W. Grody, Brian G. Skotko, Michael J. Dougherty
المصدر: Journal of women's health (2002). 26(7)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, Genetic Counseling, Prenatal care, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Obstetrics and gynaecology, Pregnancy, Prenatal Diagnosis, Medicine, Humans, Genetic Testing, Reimbursement, Genetic testing, Pace, 030219 obstetrics & reproductive medicine, Modalities, medicine.diagnostic_test, business.industry, General Medicine, DNA, Genomics, Obstetrics, Prenatal screening, Gynecology, Family medicine, Practice Guidelines as Topic, Medical genetics, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb3dae1067b3ecd5ae38c5b12b104065Test
https://pubmed.ncbi.nlm.nih.gov/28388340Test -
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المؤلفون: Amber K. Volk, Elyse B. Mitchell, Brittany C. Thomas, Cassandra K. Runke, Anna A. Essendrup, Katrina E. Kotzer, David R. Deyle, Lea Coon, Rajiv K. Pruthi, Devin Oglesbee, Lindsay Zetzsche, Jennifer Kemppainen, Ralitza H. Gavrilova
المصدر: Essentials of Anatomic Pathology ISBN: 9783319233796
مصطلحات موضوعية: medicine.medical_specialty, Inheritance (genetic algorithm), Computational biology, Biology, medicine.disease, symbols.namesake, Angelman syndrome, medicine, Mendelian inheritance, symbols, Medical genetics, Inheritance Patterns, Human genome, Chromosome breakage, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cbcbb99809b6920b7f7eca54336ffb79Test
https://doi.org/10.1007/978-3-319-23380-2_13Test