نتائج البحث - "Blackburn, Patrick"

المصدر: Hsieh , T-C , Lesmann , H , Hustinx , A , Moosa , S , Marchi , E , Martin , M D P C , Abdelrazek , I , Pantel , J T , Klinkhammer , H , Hagen , M T , Thong , M-K , Mazlan , R A B , Tae , S K , Kamphans , T , Meiswinkel , W , Javanmardi , B , Knaus , A , Uwineza , A , Knopp , C , Tkemaladze , T , Elbracht , M , Mattern , L , Jamra , R ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/4292a019-4578-4cc0-aeab-58f7f92e1eabTest

الإتاحة: https://doi.org/10.21203/rs.3.rs-4438861/v1Test
https://pure.eur.nl/en/publications/4292a019-4578-4cc0-aeab-58f7f92e1eabTest
https://pure.eur.nl/ws/files/154580872/GestaltMatcher_Database_-_A_global_reference_for_facial_phenotypic_variability_in_rare_human_diseases.pdfTest

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5

دورية أكاديمية

O04: Evaluation of the performance of the Bayesian point system on the variant classification of hereditary cancer predisposition genes

المؤلفون: Eldomery, Mohammad, Blackburn, Patrick, Cain, Taylor, Loyola, Victor Pastor, Wheeler, David, Wang, Lu, Klco, Jeffery M., Maciaszek, Jamie

المصدر: Genetics in Medicine Open ; volume 2, page 100940 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.100940Test
https://api.elsevier.com/content/article/PII:S2949774424000864?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424000864?httpAccept=text/plainTest

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6

تقرير

A recipe for annotating grounded clarifications

المؤلفون: Benotti, Luciana, Blackburn, Patrick

مصطلحات موضوعية: Computer Science - Computation and Language, Computer Science - Artificial Intelligence

الوصول الحر: http://arxiv.org/abs/2104.08964Test

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7

تقرير

Isabelle/HOL as a Meta-Language for Teaching Logic

المؤلفون: From, Asta Halkjær, Villadsen, Jørgen, Blackburn, Patrick

المصدر: EPTCS 328, 2020, pp. 18-34

مصطلحات موضوعية: Computer Science - Logic in Computer Science

الوصول الحر: http://arxiv.org/abs/2010.16014Test

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8

دورية أكاديمية

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

المؤلفون: Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R, Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J, Schnur, Rhonda E, Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter, Jolien S, Bijlsma, Emilia, Hoffer, Mariëtte JV, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A, Machol, Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay, Ela, Chang, Richard C, Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W, Lefebvre, Véronique, Clark, Karl J, Depienne, Christel

المصدر: Genetics in Medicine. 22(3)

مصطلحات موضوعية: Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Clinical Research, Rare Diseases, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Haploinsufficiency, Humans, Infant, Intellectual Disability, Language Development Disorders, Male, Mutation, Missense, Neurodevelopmental Disorders, Pedigree, Phenotype, SOXD Transcription Factors, Young Adult, autism, developmental delay, intellectual disability, epilepsy, missense variants, Deciphering Developmental DisorderStudy, missense variants., Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/14x4x4wpTest

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9

كتاب

The Past, Present and Future of the Prior Internet Resources

المؤلفون: Sabir, Fatima, Blackburn, Patrick Rowan, Kofod, Julie Lundbak

المساهمون: Jakobsen, David, Hasle, Per, Øhrstrøm, Peter

المصدر: Sabir , F , Blackburn , P R & Kofod , J L 2023 , The Past, Present and Future of the Prior Internet Resources . in D Jakobsen , P Hasle & P Øhrstrøm (eds) , The History and Philosophy of Tense-logic . Aalborg Universitetsforlag , Aalborg , Logic and Philosophy of Time , no. 1 , vol. 5 . https://doi.org/10.54337/lpt.v5i1.7864Test

مصطلحات موضوعية: Arthur Prior, The Prior Internet Resources (PIR), reSearch Assistant, Nachlass, eResearch

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.54337/lpt.v5i1.7864Test
https://forskning.ruc.dk/da/publications/28450c4e-96da-4eab-b65a-23595165e0f5Test
https://hdl.handle.net/1800/28450c4e-96da-4eab-b65a-23595165e0f5Test
https://rucforsk.ruc.dk/ws/files/98363068/The_Past_Present_and_Future_of_the_Prior_Internet_Resources.pdfTest

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10

دورية أكاديمية

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

المؤلفون: Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L, McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J, Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia AL, Nibbeling, Esther, Dingemans, Alexander JM, Douine, Emilie D, Nelson, Stanley F, Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A, Newbury-Ecob, Ruth

المصدر: Genetics in Medicine. 21(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Prevention, Brain Disorders, Rare Diseases, Pediatric, Clinical Research, Digestive Diseases, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Developmental Disabilities, Exome, Female, Genetic Association Studies, Genotype, Histone Acetyltransferases, Humans, Infant, Intellectual Disability, Male, Microcephaly, Mutation, Phenotype, Protein Isoforms, Young Adult, genetic diagnosis, phenotypic spectrum, KAT6A syndrome, chromatin modifiers, intellectual disability, DDD Study, KAT6A syndrome, chromatin modifiers, intellectual disability, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/79s761gbTest

View record in eScholarship

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