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1دورية أكاديمية
المؤلفون: Radio, FC, Pang, KF, Ciolfi, A, Levy, MA, Hernandez-Garcia, A, Pedace, L, Pantaleoni, F, Liu, ZD, de Boer, E, Jackson, A, Bruselles, A, McConkey, H, Stellacci, E, Lo Cicero, S, Motta, M, Carrozzo, R, Dentici, ML, McWalter, K, Desai, M, Monaghan, KG, Telegrafi, A, Philippe, C, Vitobello, A, Au, M, Grand, K, Sanchez-Lara, PA, Baez, J, Lindstrom, K, Kulch, P, Sebastian, J, Madan-Khetarpal, S, Roadhouse, C, MacKenzie, JJ, Monteleone, B, Saunders, CJ, Cuevas, JKJ, Cross, L, Zhou, DH, Hartley, T, Sawyer, SL, Monteiro, FP, Secches, TV, Kok, F, Schultz-Rogers, LE, Macke, EL, Morava, E, Klee, EW, Kemppainen, J, Iascone, M, Selicorni, A, Tenconi, R, Amor, DJ, Pais, L, Gallacher, L, Turnpenny, PD, Stals, K, Ellard, S, Cabet, S, Lesca, G, Pascal, J, Steindl, K, Ravid, S, Weiss, K, Castle, AMR, Carter, MT, Kalsner, L, de Vries, BBA, van Bon, BW, Wevers, MR, Pfundt, R, Stegmann, APA, Kerr, B, Kingston, HM, Chandler, KE, Sheehan, W, Elias, AF, Shinde, DN, Towne, MC, Robin, NH, Goodloe, D, Vanderver, A, Sherbini, O, Bluske, K, Hagelstrom, RT, Zanus, C, Faletra, F, Musante, L, Kurtz-Nelson, EC, Earl, RK, Anderlid, BM, Morin, G, van Slegtenhorst, M, Diderich, KEM, Brooks, AS, Gribnau, J, Boers, RG, Finestra, TR, Carter, LB, Rauch, A, Gasparini, P, Boycott, KM, Barakat, TS, Graham, JM, Faivre, L, Banka, S, Wang, TY, Eichler, EE, Priolo, M, Dallapiccola, B, Vissers, LELM, Sadikovic, B, Scott, DA, Holder, JL, Tartaglia, M
المصدر: American journal of human genetics. 108(3):502-516
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Smith, M, Alexander, E, Marcinkute, R, Dan, DR, Rawson, M, Banka, S, Gavin, J, Mina, H, Hennessy, C, Riccardi, F, Radio, FC, Havlovicova, M, Cassina, M, Chirita-Emandi, A, Fradin, M, Gompertz, L, Nordgren, A, Traberg, R, Rossi, M, Trimouille, A, Sowmyalakshmi, R, Dallapiccola, B, Renieri, A, Faivre, L, Kerr, B, Verloes, A, Clayton-Smith, J, Douzgou, S
المصدر: Orphanet journal of rare diseases. 15(1):103
مصطلحات موضوعية: Medicin och hälsovetenskap
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3مؤتمر
المؤلفون: Radio, FC, Pang, KF, Ciolfi, A, Levy, MA, Pedace, L, de Boer, E, Jackson, A, Stellacci, E, Lo Cicero, S, Dentici, ML, McWalter, K, Sanchez-Lara, PA, Lindstrom, K, Madan-Khetarpal, S, MacKenzie, JJ, Monteleone, B, Zhou, DH, Sawyer, SL, Monteiro, FP, Macke, EL, Iascone, M, Selicorni, A, Tenconi, R, Amor, DJ, Stals, K, Cabet, S, Steindl, K, Weiss, K, Castle, AMR, Kalsner, L, Chandler, KE, Sheehan, W, Shinde, DN, Goodloe, D, Bluske, K, Faletra, F, Kurtz-Nelson, EC, Anderlid, BM, Barakat, TS, Graham, JM, Faivre, L, Banka, S, Wang, TY, Priolo, M, Dallapiccola, B, Vissers, LELM, Sadikovic, B, Scott, DA, Holder, JL, Tartaglia, M
المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS. 30(SUPPL 1):25-26
مصطلحات موضوعية: Medicin och hälsovetenskap
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4مؤتمر
المؤلفون: Denomme-Pichon, AS, de Boer, E, Jackson, A, Benetti, E, Banka, S, Casari, G, Ciolfi, A, Clayton-Smith, J, Dallapiccola, B, Ellwanger, K, Faivre, L, Gilissen, C, Graessner, H, Haack, TB, Hammarsjo, A, Havlovicova, M, Hoischen, A, Hugon, A, Kleefstra, T, Lindstrand, A, Lopez-Martin, E, Macek, M, Matalonga, L, Morleo, M, Nigro, V, Nordgren, A, Pettersson, M, Pinelli, M, Pizzi, S, Posada, M, Radio, FC, Renieri, A, Rooryck, C, Ryba, L, Schwarz, M, Tartaglia, M, Thauvin, C, Torella, A, Trimouille, A, Votypka, P, Vyshka, K, Zurek, B, Verloes, A, Vitobello, A, Vissers, L
المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS. 30(SUPPL 1):236-237
مصطلحات موضوعية: Medicin och hälsovetenskap
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5
المؤلفون: Martinelli, S, Pannone, L, Lissewski, C, Brinkmann, J, Flex, E, Schanze, D, Calligari, P, Anselmi, M, Pantaleoni, F, Canale, Vc, Radio, Fc, Ioannides, A, Rahner, N, Schanze, I, Josifova, D, Bocchinfuso, G, Ryten, M, Stella, L, Tartaglia, M, Zenker, M
مصطلحات موضوعية: Settore CHIM/02, ERK phosphorylation studies, in vitro phosphatase assay, Noonan syndrome, SHP2, molecular dynamics simulations, PTPN11
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3667::72cf422a12a8352a3461b8c934df67af
http://hdl.handle.net/2108/245417 -
6
المؤلفون: Lètocart, E, LE GAC, G, Majore, S, Ka, C, Radio, Fc, Gourlaouen, I, DE BERNARDO, C, Féerec, C, Grammatico, Paola
مصطلحات موضوعية: HEREDITARY HEMOCHROMATOSIS, SLC40A1
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3686::0a045024e9479375c387d09ff2468511
http://hdl.handle.net/11573/117586 -
7
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8
المؤلفون: Radio, Fc, Colosimo, Alessia, Cappabianca, Mp, Andreani, M, Testi, M, Guida, V, DE BERNARDO, C, Amato, A, Majore, S, Grammatico, P, Federici, G, Lucarelli, G, Dallapiccola, B.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3664::87e75b556ca78b049ff315bbd56316a9
http://hdl.handle.net/11575/12387 -
9دورية أكاديمية
المؤلفون: Nurchis MC; School of Economics, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168, Rome, Italy. nurchismario@gmail.com.; Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Rome, Italy. nurchismario@gmail.com., Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, 00146, Rome, Italy., Salmasi L; Department of Economics and Finance, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Heidar Alizadeh A; Department of Health Sciences and Public Health, Section of Hygiene, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Raspolini GM; Department of Health Sciences and Public Health, Section of Hygiene, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Altamura G; Department of Health Sciences and Public Health, Section of Hygiene, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, 00146, Rome, Italy., Dallapiccola B; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, 00146, Rome, Italy., Damiani G; Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Rome, Italy.; Department of Health Sciences and Public Health, Section of Hygiene, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.
المصدر: The European journal of health economics : HEPAC : health economics in prevention and care [Eur J Health Econ] 2024 Aug; Vol. 25 (6), pp. 999-1011. Date of Electronic Publication: 2023 Nov 17.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101134867 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1618-7601 (Electronic) Linking ISSN: 16187598 NLM ISO Abbreviation: Eur J Health Econ Subsets: MEDLINE
مواضيع طبية MeSH: Cost-Benefit Analysis* , Bayes Theorem* , Genetic Diseases, Inborn*/diagnosis , Genetic Diseases, Inborn*/genetics , Genetic Diseases, Inborn*/economics , Exome Sequencing*/economics , Exome Sequencing*/methods , Whole Genome Sequencing*/economics , Whole Genome Sequencing*/methods, Humans ; Child ; Markov Chains ; Decision Trees ; Italy ; Genetic Testing/economics ; Genetic Testing/methods ; Female ; Male ; Child, Preschool ; Cost-Effectiveness Analysis
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10دورية أكاديمية
المؤلفون: Kalm T; Institute for Cellular and Integrative Physiology, Center for Experimental Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Schob C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Völler H; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Klabunde-Cherwon A; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Ries M; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Syrbe S; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Beccaria F; Epilepsy Center, Department of Child Neuropsychiatry, Territorial Social-Health Agency, 46100 Mantova, Italy., Madia F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Scala M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy., Zara F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy., Hofstede F; Department of General Pediatrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands., Simon MEH; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., van Jaarsveld RH; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., Oegema R; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., van Gassen KLI; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., Holwerda SJB; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands., Álvarez S; Genomics and Medicine, NIMGenetics, 28108 Madrid, Spain., Fernández-Jaén A; Pediatric Neurology Department, Quironsalud University Hospital Madrid, School of Medicine, European University of Madrid, 28224 Madrid, Spain., Porta J; Genomics, Genologica Medica, 29016 Málaga, Spain., Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, QC H4A 3J1 Montreal, Canada; Department of Human Genetics, McGill University, QC H4A 3J1 Montreal, Canada., Mancardi MM; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy; Pediatric Neurology and Neuromuscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-744, Republic of Korea; Department of Genomic Medicine, Rare Disease Center, Seoul National University Hospital, Seoul 03080, Republic of Korea., Jang S; Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-744, Republic of Korea., Kim SY; Department of Genomic Medicine, Rare Disease Center, Seoul National University Hospital, Seoul 03080, Republic of Korea., Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto ON M5G 1E2 Toronto, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, M5G 1X8 Toronto, Canada., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, M5G 1X8 Toronto, Canada; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, AB T6G 2H7 Edmonton, Canada., Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Kampmeier A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Surowy H; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Bertini ES; Neuromuscular Disorders, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Radio FC; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Pizzi S; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Gauthier L; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, University Hospital of Montpellier, 34295 Montpellier, France., Genevieve D; Montpellier University, Inserm U1183, Montpellier, France; Department of Clinical Genetics, University Hospital of Montpellier, 34295 Montpellier, France., Tharreau M; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, University Hospital of Montpellier, 34295 Montpellier, France., Azoulay N; The Genetic Institute of Maccabi Health Services, Rehovot 7610000, Israel; Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva 49100, Israel., Zaks-Hoffer G; Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva 49100, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel., Gilad NK; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikvah 4920235, Israel., Orenstein N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikvah 4920235, Israel., Bernard G; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, QC H4A 3J1 Montreal, Canada; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada., Thiffault I; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Bähring R; Institute for Cellular and Integrative Physiology, Center for Experimental Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: r.baehring@uke.uni-hamburg.de., Kindler S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: kindler@uke.de.
المصدر: American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1206-1221. Date of Electronic Publication: 2024 May 20.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
مواضيع طبية MeSH: Neurodevelopmental Disorders*/genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Epilepsy/genetics ; Exome Sequencing ; Genetic Diseases, X-Linked/genetics ; Heterozygote ; Mutation, Missense/genetics ; Pedigree ; Phenotype ; Shal Potassium Channels/genetics
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