المؤلفون: Morimoto, Marie, Bhambhani, Vikas, Gazzaz, Nour, Davids, Mariska, Sathiyaseelan, Paalini, Macnamara, Ellen F, Lange, Jennifer, Lehman, Anna, Zerfas, Patricia M, Murphy, Jennifer L, Acosta, Maria T, Wang, Camille, Alderman, Emily, Reichert, Sara, Thurm, Audrey, Adams, David R, Introne, Wendy J, Gorski, Sharon M, Boerkoel, Cornelius F, Gahl, William A, Tifft, Cynthia J, Malicdan, May Christine V

المصدر: npj Genomic Medicine. 8(1)

مصطلحات موضوعية: Biochemistry and Cell Biology, Genetics, Biological Sciences, Clinical Research, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Undiagnosed Diseases Network, Medical biotechnology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1g6176gnTest

المؤلفون: Scala, Marcello, Nishikawa, Masashi, Ito, Hidenori, Tabata, Hidenori, Khan, Tayyaba, Accogli, Andrea, Davids, Laura, Ruiz, Anna, Chiurazzi, Pietro, Cericola, Gabriella, Schulte, Björn, Monaghan, Kristin G, Begtrup, Amber, Torella, Annalaura, Pinelli, Michele, Denommé-Pichon, Anne Sophie, Vitobello, Antonio, Racine, Caroline, Mancardi, Maria Margherita, Kiss, Courtney, Guerin, Andrea, Wu, Wendy, Gabau Vila, Elisabeth, Mak, Bryan C, Martinez-Agosto, Julian A, Gorin, Michael B, Duz, Bugrahan, Bayram, Yavuz, Carvalho, Claudia MB, Vengoechea, Jaime E, Chitayat, David, Tan, Tiong Yang, Callewaert, Bert, Kruse, Bernd, Bird, Lynne M, Faivre, Laurence, Zollino, Marcella, Biskup, Saskia, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Striano, Pasquale, Nigro, Vincenzo, Severino, Mariasavina, Capra, Valeria, Costain, Gregory, Nagata, Koh Ichi

المصدر: Brain : a journal of neurology. 145(9)

مصطلحات موضوعية: Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Neurons, Animals, Humans, Mice, rac GTP-Binding Proteins, Phenotype, p21-Activated Kinases, Neurodevelopmental Disorders, RAC3, axon guidance, brain development, neuronal migration, small GTPase, Neurosciences, Pediatric, Congenital Structural Anomalies, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, RAC3, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6xw4z6x0Test

المؤلفون: Ela Curic, Lisa Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D. Botto, Ann Nordgren, William Gahl, Elizabeth Emma Palmer

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Undiagnosed Diseases Programs, Rare diseases, Genomics, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/2c3c80d58dd945c1b647c7d3b1dfd30bTest

المؤلفون: Shankar, Suma P, Grimsrud, Kristin, Lanoue, Louise, Egense, Alena, Willis, Brandon, Hörberg, Johanna, AlAbdi, Mayer, Klaus, Ütkür, Koray, Monaghan, Kristin G, Krier, Joel, Stoler, Joan, Alnemer, Maha, Shankar, Prabhu R, Schaffrath, Raffael, Alkuraya, Fowzan S, Brinkmann, Ulrich, Eriksson, Leif A, Lloyd, Kent, Rauen, Katherine A, Network, Undiagnosed Diseases, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G, Deardorff, Matthew, Dell'Angelica, Esteban C, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L, Fisher, Paul G

المصدر: Genetics in Medicine. 24(7)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Pediatric, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adenosine Diphosphate, Animals, Histidine, Humans, Methyltransferases, Mice, Mice, Inbred C57BL, Neurodevelopmental Disorders, Saccharomyces cerevisiae, Saccharomyces cerevisiae Proteins, Syndrome, Nonverbal neurodevelopment delays, Novel gene discovery, Precision animal modeling, Precision genomics, Translational genetics, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9kg2s7vkTest
https://escholarship.org/content/qt9kg2s7vk/qt9kg2s7vk.pdfTest

المؤلفون: Kobren, Shilpa Nadimpalli, Baldridge, Dustin, Velinder, Matt, Krier, Joel B, LeBlanc, Kimberly, Esteves, Cecilia, Pusey, Barbara N, Züchner, Stephan, Blue, Elizabeth, Lee, Hane, Huang, Alden, Bastarache, Lisa, Bican, Anna, Cogan, Joy, Marwaha, Shruti, Alkelai, Anna, Murdock, David R, Liu, Pengfei, Wegner, Daniel J, Paul, Alexander J, Undiagnosed Diseases Network, Sunyaev, Shamil R, Kohane, Isaac S

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(6)

مصطلحات موضوعية: Undiagnosed Diseases Network, Humans, Computational Biology, Genomics, Genome, Software, Genetic Testing, Workflow, Undiagnosed Diseases, Genetics, Human Genome, Genetics & Heredity, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2kt3f4xrTest

المؤلفون: Ken Nagino, PhD, Jaemyoung Sung, MD, Akie Midorikawa-Inomata, MPH, PhD, Atsuko Eguchi, PhD, Keiichi Fujimoto, MD, PhD, Yuichi Okumura, MD, PhD, Maria Miura, MD, PhD, Alan Yee, PhD, Shokirova Hurramhon, MD, PhD, Kenta Fujio, MD, Yasutsugu Akasaki, MD, Kunihiko Hirosawa, MD, Tianxiang Huang, MD, Mizu Ohno, MD, Yuki Morooka, MD, Xinrong Zou, MD, Hiroyuki Kobayashi, MD, PhD, Takenori Inomata, MD, PhD

المصدر: Ophthalmology Science, Vol 4, Iss 1, Pp 100342- (2024)

مصطلحات موضوعية: Smartphone applications, Ophthalmology, Potential clinical utility, Early detection of undiagnosed diseases, Remote monitoring, RE1-994

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S266691452300074XTest; https://doaj.org/toc/2666-9145Test

الوصول الحر: https://doaj.org/article/5d5c337846c24f958536cff2a8c5c9c8Test

المؤلفون: Kyle, Jennifer E, Stratton, Kelly G, Zink, Erika M, Kim, Young-Mo, Bloodsworth, Kent J, Monroe, Matthew E, Undiagnosed Diseases Network, Waters, Katrina M, Webb-Robertson, Bobbie-Jo M, Koeller, David M, Metz, Thomas O

المصدر: Scientific data. 8(1)

مصطلحات موضوعية: Undiagnosed Diseases Network, Humans, Metabolic Diseases, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Infant, Infant, Newborn, Female, Male, Mass Spectrometry, Metabolomics, Young Adult, Datasets as Topic, Undiagnosed Diseases, Lipidomics, Clinical Research, Metabolic and endocrine

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1m78g90rTest

المؤلفون: Studwell, Courtney M, Kelley, Emily G, Undiagnosed Diseases Network, Sinsheimer, Janet S, Palmer, Christina GS, LeBlanc, Kimberly

المصدر: Journal of genetic counseling. 30(2)

مصطلحات موضوعية: Undiagnosed Diseases Network, Humans, Communication, Family, Parents, Genetic Counseling, Adult, Genetic Testing, Undiagnosed Diseases, communication, family, family communication, genetic counseling, genetic results, undiagnosed disease, Clinical Research, Genetics, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/10q2c8mdTest

المؤلفون: Schoch, Kelly, Esteves, Cecilia, Bican, Anna, Spillmann, Rebecca, Cope, Heidi, McConkie-Rosell, Allyn, Walley, Nicole, Fernandez, Liliana, Kohler, Jennefer N, Bonner, Devon, Reuter, Chloe, Stong, Nicholas, Mulvihill, John J, Novacic, Donna, Wolfe, Lynne, Abdelbaki, Ayat, Toro, Camilo, Tifft, Cyndi, Malicdan, May, Gahl, William, Liu, Pengfei, Newman, John, Goldstein, David B, Hom, Jason, Sampson, Jacinda, Wheeler, Matthew T, Undiagnosed Diseases Network, Cogan, Joy, Bernstein, Jonathan A, Adams, David R, McCray, Alexa T, Shashi, Vandana

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(2)

مصطلحات موضوعية: Undiagnosed Diseases Network, Animals, Humans, Rare Diseases, Retrospective Studies, Genomics, Undiagnosed Diseases, Exome Sequencing, exome sequencing, genome sequencing, phenotyping, ultrarare diseases, undiagnosed diseases, Human Genome, Genetics, Biotechnology, Good Health and Well Being, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0hf945vjTest

المؤلفون: Rasi, Chiara, Nilsson, Daniel, Magnusson, Måns, Lesko, Nicole, Lagerstedt-Robinson, Kristina, Wedell, Anna, Lindstrand, Anna, Wirta, Valtteri, Stranneheim, Henrik

المصدر: Human Mutation. 43(6):708-716

مصطلحات موضوعية: gene discovery, genomic API, Matchmaker Exchange, matchmaking, rare disease, algorithm, Article, data availability, data integration, e-mail, equipment design, genomic medicine, genotype, human, open source software, patient coding, patient information, undiagnosed disease, genetic association study, genetic predisposition, genetics, information dissemination, procedures, software, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Rare Diseases, Undiagnosed Diseases

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-321868Test
https://doi.org/10.1002/humu.24358Test