المؤلفون: Nathaniel Elia, Trystan Nault, Hugh J. McMillan, Gail E. Graham, Lijia Huang, Stephen C. Cannon

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: skeletal muscle, channelopathy, sodium channel, NaV1.4, myotonia, voltage-clamp, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2020.00181/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/ca9e0c69c89b4806b15685496316c0ecTest

المؤلفون: Nathaniel Elia, Trystan Nault, Hugh J. McMillan, Gail E. Graham, Lijia Huang, Stephen C. Cannon

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: skeletal muscle, channelopathy, sodium channel, NaV1.4, myotonia, voltage-clamp, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2020.00077/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/cdee1e9e5a74441a995371d88fa6eefeTest

المؤلفون: Krista M. Vincent, Gail E. Graham

المصدر: European Journal of Human Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::307145d3271547e428338b147944407bTest
https://doi.org/10.1038/s41431-023-01385-xTest

المؤلفون: Krista Marie Vincent, Dimitri J. Stavropoulos, Melanie Beaulieu‐Bergeron, Chen Yang, Mary Jiang, Caroline Zuijdwijk, David A. Dyment, Gail E. Graham

المصدر: American Journal of Medical Genetics Part A. 188:2421-2428

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::37770a0c825a2c2a5bad06da869a8145Test
https://doi.org/10.1002/ajmg.a.62782Test

المؤلفون: Rory J. Olson, Jane Juusola, Mark Flage, Carlos E. Prada, Srikar Kuppa, Gustavo Adolfo Contreras-García, Camilo A. Peñaloza-Mantilla, Maria J. Guillen Sacoto, Gail E. Graham, Lindsay Rhodes, James Liu, Pavel N. Pichurin, Michael Marble, Regina M. Zambrano, Wendy K. Chung, Parul Jayakar, Matthew J. Schultz, Mary Ella M Pierpont, Karina A. Campo-Neira, Matthew Osmond, Ingrid M. Wentzensen, Sairah Yousaf, Robert B. Hufnagel, Rhonda E. Schnur, Nara Sobreira, Maria I. Scarano, Karina Navarro

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Ectrodactyly, Limb Deformities, Congenital, Ubiquitin-Activating Enzymes, 030105 genetics & heredity, Microphthalmia, Article, Aplasia cutis congenita, 03 medical and health sciences, Ectodermal Dysplasia, medicine, Animals, Humans, Missense mutation, Abnormalities, Multiple, Zebrafish, Genetics (clinical), Exome sequencing, Loss function, Genetics, biology, medicine.disease, biology.organism_classification, 030104 developmental biology, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd1bddf790db45f36a565020c2b332a2Test
https://doi.org/10.1038/s41436-021-01182-1Test

المؤلفون: Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P. Adam, Hans T. Bjornsson, Jacqueline Harris, David A. Dyment, Gail E. Graham, Marjan M. Nezarati, Ritu B. Aul, Claudia Castiglioni, Jeroen Breckpot, Koen Devriendt, Helen Stewart, Benito Banos-Pinero, Sarju Mehta, Richard Sandford, Carolyn Dunn, Remi Mathevet, Lionel van Maldergem, Juliette Piard, Elise Brischoux-Boucher, Antonio Vitobello, Laurence Faivre, Marie Bournez, Frederic Tran-Mau, Isabelle Maystadt, Alberto Fernández-Jaén, Sara Alvarez, Irene Díez García-Prieto, Fowzan S. Alkuraya, Hessa S. Alsaif, Zuhair Rahbeeni, Karen El-Akouri, Mariam Al-Mureikhi, Rebecca C. Spillmann, Vandana Shashi, Pedro A. Sanchez-Lara, John M. Graham, Amy Roberts, Odelia Chorin, Gilad D. Evrony, Minna Kraatari-Tiri, Tracy Dudding-Byth, Anamaria Richardson, David Hunt, Laura Hamilton, Sarah Dyack, Bryce A. Mendelsohn, Nicolás Rodríguez, Rosario Sánchez-Martínez, Jair Tenorio-Castaño, Julián Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A. Micheil Innes, Antonie D. Kline, P.Y. Billie Au, Rosanna Weksberg

المصدر: AM J HUM GENET
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname

مصطلحات موضوعية: DNA methylation signature, Kabuki syndrome, HNRNPK, RNA processing gene, epigenetics, DNA Methylation, Okamoto syndrome, neurodevelopmental disorder, Hematologic Diseases, Chromatin, Epigenesis, Genetic, episignature, Heterogeneous-Nuclear Ribonucleoprotein K, Phenotype, Vestibular Diseases, Face, Intellectual Disability, Genetics, Humans, Au-Kline syndrome, Abnormalities, Multiple, Genetics (clinical)

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ba1707a022519a64f5aad1953051153Test
https://lirias.kuleuven.be/handle/20.500.12942/704570Test

المؤلفون: James S. Cowan, Barbara Laine Kagedan, Gail E. Graham, Bev Heim-Myers, Yvonne Bombard

المصدر: Can Fam Physician

مصطلحات موضوعية: Commentaire, General Medicine, Family Practice

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b218b388f017defc78d657eb5b30032eTest
https://europepmc.org/articles/PMC9470198Test/

المؤلفون: James S. Cowan, Barbara Laine Kagedan, Gail E. Graham, Bev Heim-Myers, Yvonne Bombard

المصدر: Can Fam Physician

مصطلحات موضوعية: Employment, Canada, Commentary, Humans, General Medicine, Genetic Testing, Family Practice, Delivery of Health Care

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a5bdf7abba79e5c1d0177d4436146caTest
https://europepmc.org/articles/PMC9470184Test/

المؤلفون: Elaine H. Zackai, Julien L. Marcadier, Jennifer M. Kalish, Melissa T. Carter, Alana Strong, Anne Reilly, Gerald Wertheim, Lea F. Surrey, John M. Maris, Gail E. Graham, Tugce B. Balci

المصدر: Paediatrics Publications

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Central sleep apnea, Adolescent, Context (language use), DNA Methyltransferase 3A, Young Adult, Orthostatic vital signs, Intellectual Disability, Intellectual disability, Genetics, Humans, Medicine, Abnormalities, Multiple, DNA (Cytosine-5-)-Methyltransferases, Child, Preschool, Growth Disorders, Genetics (clinical), Ganglioneuroblastoma, business.industry, Lymphoblastic lymphoma, Infant, Dysautonomia, Congenital diaphragmatic hernia, Syndrome, medicine.disease, Phenotype, Clathrin Heavy Chains, Child, Preschool, Mutation, Female, Abnormalities, medicine.symptom, business, Multiple

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b36deac8a76303db9ec54966c2c3504fTest
https://doi.org/10.1002/ajmg.a.61475Test

المؤلفون: Gail E. Graham, D.Y.C. Heng, Jean-Baptiste Lattouf, Alan So, Neil Reaume, Michael A.S. Jewett, Simon Tanguay, Lori Wood, Igal Kushnir, Rodney H. Breau, Naveen S. Basappa, Raymond H. Kim, Philippe D. Violette, L. Kirk, Stephen E. Pautler, Melanie Care, Anil Kapoor, Ranjeeta Mallick, Frédéric Pouliot

المصدر: Clinical Oncology. 32:e10-e15

مصطلحات موضوعية: Adult, Male, Population, Hereditary Renal Cell Carcinoma, computer.software_genre, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Risk Factors, Renal cell carcinoma, medicine, Clinical endpoint, Humans, Radiology, Nuclear Medicine and imaging, Prospective Studies, education, Carcinoma, Renal Cell, Data Management, Genetic testing, education.field_of_study, Database, medicine.diagnostic_test, business.industry, Incidence (epidemiology), medicine.disease, Kidney Neoplasms, Oncology, 030220 oncology & carcinogenesis, Database Management Systems, Female, business, Kidney cancer, computer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cdfcf54478a742623898b1777913053Test
https://doi.org/10.1016/j.clon.2019.07.010Test