المؤلفون: Jennifer Schleit, Meredith Wright, Lauren Olsen, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, Katarzyna (Kasia) Ellsworth, Annette Feigenbaum, Erwin Frise, Lucia Guidugli, Kevin Hall, Christian Hansen, Charlotte Hobbs, Mark Kiel, Chad Krilow, Chris Kunard, YongHyun Kwon, Rao Madhavrao, Shyamal Mehtalia, William Mowrey, Jennie Le, Jeremy Leipzig, Yupu Liang, Rebecca Mardach, Danny Oh, Mallory Owen, Liana Protopsaltis, Erica Sanford Kobayashi, Gunter Scharer, Brandon Schultz, Seth Shelnutt, Laurie Smith, Duke Tran, Lucita Van Der Kraan, Kristen Wigby, Mary Willis, Aaron Wolen, Mark Yandell, Thomas Defay, Stephen Kingsmore

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101043- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424001894; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/5daec32c1b634cde9bb11add9157b198

المؤلفون: Eric Ontiveros, Liana Protopsaltis, Rebecca Baer, Matthew Bainbridge, Bryant Cao, Yan Ding, Katarzyna (Kasia) Ellsworth, Laura Forero, Erwin Frise, Lucia Guidugli, YongHyun Kwon, Jennie Le, Scott Oltman, Mallory Owen, Erica Sanford Kobayashi, Lucita Van Der Kraan, Meredith Wright, Mark Yandell, Laura Jelliffe-Pawlowski, Gretchen Bandoli, Christina Chambers, Stephen Kingsmore

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101053- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424001997; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/63819eca9b15442a9543c6cdea32b6cc

المؤلفون: Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, Medical Genome Initiative

المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/6905d648dde247ee8ce993083466d75f

المؤلفون: James N. Ingle, Richard M. Weinshilboum, Aman Buzdar, Eric D. Wieben, William R. Miller, J. Michael Dixon, Saranya Ravi, Vera J. Suman, Anthony Batzler, Gregory D. Jenkins, Brooke L. Fridley, Yvette N. Martin, Bruce W. Eckloff, Linda L. Pelleymounter, Irene Moon, Katarzyna A. Ellsworth, Liewei Wang

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40802f1513bdf9448a84e941fabf4618
https://doi.org/10.1158/0008-5472.22382681.v1

المؤلفون: James N. Ingle, Richard M. Weinshilboum, Aman Buzdar, Eric D. Wieben, William R. Miller, J. Michael Dixon, Saranya Ravi, Vera J. Suman, Anthony Batzler, Gregory D. Jenkins, Brooke L. Fridley, Yvette N. Martin, Bruce W. Eckloff, Linda L. Pelleymounter, Irene Moon, Katarzyna A. Ellsworth, Liewei Wang

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b2cac2727e5c2c89858e652a48d2ab47
https://doi.org/10.1158/0008-5472.c.6500285

المؤلفون: Mallory J. Owen, Sergey Batalov, Katarzyna A. Ellsworth, Meredith Wright, Sylvia Breeding, Kwon Hugh, Stephen F. Kingsmore, Yan Ding

المصدر: Methods in Molecular Biology ISBN: 9781071629499

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a4a65379c6c2ab5ce707005dbb6fc6b6
https://doi.org/10.1007/978-1-0716-2950-5_12

المؤلفون: Christina Ashburner, Arthur D’Harlingue, Rosanna Spicer, Suma P. Shankar, Shimul Chowdhury, Juliette Hunt, David Dimmock, Katarzyna A. Ellsworth, Neda Zadeh, Bryce Waldman, Lauge Farnaes, Wendy Benson, Madelena Martin, Jason Knight, Sara A. Caylor, Ofelia Vargas-Shiraishi, Aaina Kochhar, Mario Augusto Rojas, Charlotte A. Hobbs, Priscilla Joe, Katherine A. Rauen, Maries Joseph, Kathleen Houtchens, Richard Kronick, Ami Doshi, Adam Schwarz, Stephen F. Kingsmore, Carolina I. Galarreta, Jason Carmichael, Jolie Limon, Elaine Cham, Robert H. Kaplan, Jeanne Carroll, Kristen Wigby, John P. Cleary

المصدر: American journal of human genetics, vol 108, iss 7
Am J Hum Genet

مصطلحات موضوعية: Male, 0301 basic medicine, Comparative Effectiveness Research, Quality management, 030105 genetics & heredity, Medical and Health Sciences, Tertiary care, California, quality improvement, Cohort Studies, Cost of Illness, neonatal intensive care, Prospective Studies, Economic impact analysis, Precision Medicine, Genetics (clinical), Pediatric, Genetics & Heredity, Health Services, Biological Sciences, Hospitals, Pediatric, Hospitals, Treatment Outcome, Female, health outcomes research, Medical emergency, Critical Care, pediatrics, Critical Illness, Clinical Trials and Supportive Activities, Comparative effectiveness research, rare disease, QUALY, Article, 03 medical and health sciences, genetic disease, Clinical Research, Intensive care, Genetics, medicine, Humans, quality-adjusted life years, Whole Genome Sequencing, Medicaid, business.industry, Infant, Newborn, Infant, Newborn, medicine.disease, Precision medicine, United States, Quality-adjusted life year, Good Health and Well Being, 030104 developmental biology, MediCal, real-world care, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a195984a6ab40c8a7ab4e62f2b4ffada
https://doi.org/10.1016/j.ajhg.2021.05.008

المؤلفون: Stephen T. McGarvey, Daniel D. Nguyen, Shaya S. Eftekharian, Daniel E. Weeks, Sha Tang, Mariella Simon, Sacha Ferdinandusse, Muagututia Sefuiva Reupena, David Dimmock, Take Naseri, Jose E. Abdenur, Frédéric M. Vaz, James Pitt, Ryan L. Minster, Sansan Lee, Katarzyna A. Ellsworth

المساهمون: Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, APH - Personalized Medicine, APH - Methodology

المصدر: American Journal of Medical Genetics. Part a
American journal of medical genetics. Part A, 185(1), 157-167. Wiley-Liss Inc.

مصطلحات موضوعية: 0301 basic medicine, Male, Heterozygote, Adolescent, Mitochondrial disease, media_common.quotation_subject, Samoa, Population, 030105 genetics & heredity, Biology, medicine.disease_cause, Compound heterozygosity, 03 medical and health sciences, Rare Diseases, ECHS1, Genetics, medicine, Humans, Genetic Predisposition to Disease, education, Child, Gene, Enoyl-CoA Hydratase, Genetics (clinical), media_common, Dystonia, education.field_of_study, Mutation, Daughter, Infant, Original Articles, medicine.disease, Leigh syndrome, mitochondrial disease, 030104 developmental biology, silent variant, Child, Preschool, Samoan population, Original Article, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a22f434ad33fbe033081acfb7869f48
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85094115093&origin=inward

المؤلفون: Jennifer H. Yang, Marisa W. Friederich, Katarzyna A. Ellsworth, Aliya Frederick, Emily Foreman, Denise Malicki, David Dimmock, Jerica Lenberg, Chitra Prasad, Andrea C. Yu, C. Anthony Rupar, Robert A. Hegele, Kandamurugu Manickam, Daniel C. Koboldt, Erin Crist, Samantha S. Choi, Sali M.K. Farhan, Helen Harvey, Shifteh Sattar, Natalya Karp, Terence Wong, Richard Haas, Johan L. K. Van Hove, Kristen Wigby

المصدر: Human mutation, vol 43, iss 3
Hum Mutat

مصطلحات موضوعية: Iron-Sulfur Proteins, Pediatric, Genetics & Heredity, Electron Transport Complex I, iron-sulfur clusteropathies, Iron, Clinical Sciences, NFS1, mitochondrial, Article, Mitochondria, Mitochondrial Proteins, Carbon-Sulfur Lyases, Young Adult, lactic acidosis, Clinical Research, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, Genetics (clinical), Sulfur

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e645f94902b36d211d5a0a320945ef4f
https://escholarship.org/uc/item/68j1p63k

المؤلفون: Bernt Popp, Shelby Romoser, Lara Menzies, Stacey A. Bélanger, Alireza Radmanesh, Kimberly A. Aldinger, Jennifer Keller-Ramey, Janice Baker, Jane A. Hurst, William B. Dobyns, Schahram Akbarian, Sébastien Jacquemont, Jan Maarten Cobben, Larissa Kerecuk, Kelly Radtke, Joseph T. Shieh, Khadije Jizi, Ian A. Glass, Patrick Watts, Nicola Foulds, Jerica Lenberg, Sumit Punj, George E. Hoganson, Nancy J. Mendelsohn, Rachel Rabin, Ina Sorge, Katarzyna A. Ellsworth, Katharina Löhner, Manuela Siekmeyer, Jennifer Burton, Leah Dowsett, John A. Bernat, Hannah Bombei, John Pappas, Henny H. Lemmink, Francis H. Sansbury, Ingrid M. Wentzensen, Kirsty McWalter, Deborah Osio, Pamela Trapane, Hermine E. Veenstra-Knol

المساهمون: General Paediatrics, Paediatric Genetics, ANS - Complex Trait Genetics

المصدر: American journal of medical genetics. Part A, 182(9), 2037-2048. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 182(9), 2037-2048. Wiley

مصطلحات موضوعية: Male, Microcephaly, Mutation, Missense, Biology, Nervous System Malformations, Epigenesis, Genetic, Histone H3, Loss of Function Mutation, Tubulin, SETD2, Intellectual Disability, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, histone modification, Epigenetics, AUTISM, Child, Codon, Genetic Association Studies, Genetics (clinical), Loss function, HYPB/SETD2, MARK, IDENTIFICATION, MUTATIONS, METHYLATION, Infant, Histone-Lysine N-Methyltransferase, Methylation, neurodevelopmental, medicine.disease, Histone, genotype phenotype, Neurodevelopmental Disorders, Child, Preschool, biology.protein, Female, clinical genetics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ac0597bd335d46119f3853d877b511
https://doi.org/10.1002/ajmg.a.61724