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1دورية أكاديمية
المؤلفون: Andrea Poretti, Gwendolyn J. Gerner
المصدر: Pediatric Neurology Briefs, Vol 30, Iss 12 (2016)
مصطلحات موضوعية: joubert syndrome, cognitive functions, behavior, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.pediatricneurologybriefs.com/articles/3794Test; https://doaj.org/toc/1043-3155Test; https://doaj.org/toc/2166-6482Test
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2دورية أكاديمية
المؤلفون: Xiaoying Tang, Shoko Yoshida, John Hsu, Thierry A G M Huisman, Andreia V Faria, Kenichi Oishi, Kwame Kutten, Andrea Poretti, Yue Li, Michael I Miller, Susumu Mori
المصدر: PLoS ONE, Vol 9, Iss 5, p e96985 (2014)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4014574?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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3دورية أكاديمية
المؤلفون: Tanjala T. Gipson MD, Andrea Poretti MD
المصدر: Child Neurology Open, Vol 4 (2017)
مصطلحات موضوعية: Pediatrics, RJ1-570, Neurology. Diseases of the nervous system, RC346-429
العلاقة: https://doi.org/10.1177/2329048X17725609Test; https://doaj.org/toc/2329-048XTest; https://doaj.org/article/4a30e16dd53e490c9024dc051c467e33Test
الإتاحة: https://doi.org/10.1177/2329048X17725609Test
https://doaj.org/article/4a30e16dd53e490c9024dc051c467e33Test -
4دورية أكاديمية
المؤلفون: Susanne Roosing, Marta Romani, Mala Isrie, Rasim Özgür Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al‐Gazali, Umut Altunoğlu, Eugen Boltshauser, Stefano D'Arrigo, B. De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R. Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Dua Puri, Hilde Van Esch, Joseph G. Gleeson, Enza Maria Valente
مصطلحات موضوعية: Ciliopathies Genetic Disorders Involving Primary Cilia, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Hedgehog Signaling in Development and Cancer, Molecular Biology, Development and Disorders of Fetal Brain, Pediatrics, Perinatology and Child Health, Medicine, Health Sciences, Ciliopathies, Ciliopathy, Joubert syndrome, Exome sequencing, Biology, Phenotype, Genetic heterogeneity, Cilium, Gene
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5
المؤلفون: Melanie A. Manning, Ping Fang, Julie R. Jones, Patricia A. Wight, Ken Inoue, Feng Zhang, James R. Lupski, Claudia M.B. Carvalho, Angelique Davis-Williams, Sakku Bai Naidu, Andrea Poretti, Soe Mar, Davut Pehlivan, Carly Jornlin, Hadia Hijazi, Fernanda S. Coelho, Xiaofei Song, Pankaj Patyal, Siddharth Srivastava, Claudia Gonzaga-Jauregui, Grace M. Hobson, Jennifer R. Taube, Barbara Torres, Laura Bernardini, Jennifer A. Lee, Michael J. Friez, Thomas Alberico, Andrea Hanson-Kahn, Sau Wai Cheung
المصدر: Human Mutation. 41:150-168
مصطلحات موضوعية: Male, Genome instability, Disease, Biology, Contiguous gene syndrome, Article, Chromosome Breakpoints, 03 medical and health sciences, Quantitative Trait, Heritable, Sex Factors, X Chromosome Inactivation, Intellectual disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, Gene, Genetic Association Studies, Genetics (clinical), Repetitive Sequences, Nucleic Acid, 030304 developmental biology, Chromosomes, Human, X, Comparative Genomic Hybridization, 0303 health sciences, Sex-limited genes, 030305 genetics & heredity, Breakpoint, Chromosome Mapping, Syndrome, medicine.disease, Pedigree, Phenotype, Child, Preschool, Female, Chromosome Deletion, Nervous System Diseases, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::423d7100f94d7f74a7d5bf50aa5f936bTest
https://doi.org/10.1002/humu.23902Test -
6دورية أكاديمية
المؤلفون: Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thomas, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha L, Zankl A, Leventer R, Grattan Smith P, Janecke A, Koch J, Freilinger M, D'Hooghe M, Sznajer Y, Vilain C, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Ae Kim C, Maegawa G, Dakovic I, Loncarevic D, Mejaski Bosnjak V, Petkovic D, Abdel Salam GM, Abdel Aleem A, Marti I, Pinard JM, Quijano Roy S, Sigaudy S, de Lonlay P, Romano S, Verloes A, Touraine R, Koenig M, Dollfus H, Flori E, Fradin M, Lagier Tourenne C, Messer J, Collignon P, Penzien JM, Bussmann C, Merkenschlager A, Philippi H, Kurlemann G, Grundmann K, Dacou Voutetakis C, Kitsiou Tzeli S, Pons R, Jerney J, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Girisha KM, Doshi H, Udani V, Kaul M, Stuart B, Magee A, Spiegel R, Shalev S, Mandel H, Lev D, Michelson M, Idit M, Ben Zeev B, Gershoni Baruch R, Ficcadenti A, Fischetto R, Gentile M, Della Monica M, Pezzani M, Graziano C, Seri M, Benedicenti F, Stanzial F, Borgatti R, Romaniello R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Barone R, Sorge G, Briatore E, Bigoni S, Ferlini A, Donati MA, Biancheri R, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Mirabelli M, Pessagno A, Rossi A, Uliana V, Amorini M, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Bonati MT, Castorina P, D'Arrigo S, Lalatta F, Marra G, Moroni I, Pantaleoni C, Riva D, Scelsa B, Spaccini L, Del Giudice E, Ludwig K, Permunian A, Suppiej A, Macaluso C, Pichiecchio A, Battini R, Di Giacomo M, Priolo M, Timpani P, Pagani G, Di Sabato ML, Emma F, Leuzzi V, Mancini F, Majore S, Micalizzi A, Parisi P, Romani M, Stringini G, Zanni G, Ulgheri L, Pollazzon, M, RENIERI, ALESSANDRA, Belligni E, Grosso E, Pieri I, Silengo M, Devescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, Said E, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Salih MA, Tabarki B, Jocic Jakubi B, Martorell Sampol L, Rodriguez B, Pascual Castroviejo I, Gener B, Puschmann A, Starck L, Capone A, Lemke J, Fluss J, Niedrist D, Hennekam RC, Wolf N, Gouider Khouja N, Kraoua I, Ceylaner S, Teber S, Akgul M, Anlar B, Comu S, Kayserili H, Yüksel A, Akcakus M, Caglayan AO, Aldemir O, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hemingway C, Lees M, Wakeling E, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Karaca E, Swoboda KJ, Viskochil D, Dobyns WB, Colin, Johnson, Tania, Attié Bitach, Joseph, G. Gleeson, Enza, Maria Valente
المساهمون: Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thoma, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D'Hooghe, M, Sznajer, Y, Vilain, C, Van Coster, R, Demerleir, L, Dias, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam, Gm, Abdel Aleem, A, Marti, I, Pinard, Jm, Quijano Roy, S, Sigaudy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Dollfus, H, Flori, E, Fradin, M, Lagier Tourenne, C, Messer, J, Collignon, P, Penzien, Jm, Bussmann, C, Merkenschlager, A, Philippi, H, Kurlemann, G, Grundmann, K, Dacou Voutetakis, C, Kitsiou Tzeli, S, Pons, R, Jerney, J, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Girisha, Km, Doshi, H, Udani, V, Kaul, M, Stuart, B, Magee, A, Spiegel, R, Shalev, S, Mandel, H, Lev, D, Michelson, M, Idit, M, Ben Zeev, B, Gershoni Baruch, R, Ficcadenti, A, Fischetto, R, Gentile, M, Della Monica, M, Pezzani, M, Graziano, C, Seri, M, Benedicenti, F, Stanzial, F, Borgatti, R, Romaniello, R, Accorsi, P
مصطلحات موضوعية: Ciliopathies, INPP5E, Joubert syndrome and related disorders, Meckel syndrome
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23386033; info:eu-repo/semantics/altIdentifier/wos/WOS:000324727200014; ispartofbook:European Journal of Human Genetics; volume:21; issue:10; firstpage:1074; lastpage:1078; numberofpages:5; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11365/960289Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84884592278
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المؤلفون: Kathryn A. Carson, Thierry A.G.M. Huisman, Tanjala T. Gipson, Andrea Poretti, Sarah A. Kelley, Michael V. Johnston
المصدر: Journal of Neuroimaging
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Caudate nucleus, autism, computer.software_genre, Basal Ganglia, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, Tuberous sclerosis, 0302 clinical medicine, Interquartile range, Voxel, Tuberous Sclerosis, Basal ganglia, Fractional anisotropy, Medicine, Humans, Radiology, Nuclear Medicine and imaging, 10. No inequality, Child, Original Research, business.industry, behavior, medicine.disease, diffusion tensor imaging, nervous system diseases, Globus pallidus, nervous system, Clinical Investigative Study, Tuberous sclerosis complex, intellectual disability, Child, Preschool, Female, Neurology (clinical), business, Nuclear medicine, computer, Self-Injurious Behavior, 030217 neurology & neurosurgery, self‐injurious behavior, Diffusion MRI
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7580bc43891d9c67ae373ca8d34463c2Test
http://europepmc.org/articles/PMC6618151Test -
8دورية أكاديمية
المؤلفون: MD Andrea Poretti, MD Avner Meoded, MD Kenneth J Cohen, MD Michael A Grotzer, MD Eugen Boltshauser, MD Thierry A G M Huisman
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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9
المؤلفون: Hadia Hijazi, Fernanda S. Coelho, Claudia Gonzaga‐Jauregui, Laura Bernardini, Soe S. Mar, Melanie A. Manning, Andrea Hanson‐Kahn, SakkuBai Naidu, Siddharth Srivastava, Jennifer A. Lee, Julie R. Jones, Michael J. Friez, Thomas Alberico, Barbara Torres, Ping Fang, Sau Wai Cheung, Xiaofei Song, Angelique Davis‐Williams, Carly Jornlin, Patricia A. Wight, Pankaj Patyal, Jennifer Taube, Andrea Poretti, Ken Inoue, Feng Zhang, Davut Pehlivan, Claudia M. B. Carvalho, Grace M. Hobson, James R. Lupski
المصدر: Human Mutation. 41
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f411cb5524664f133d4356ccc1fedd69Test
https://doi.org/10.1002/humu.23967Test -
10
المصدر: Neuropediatrics. 49:302-309
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Developmental Disabilities, Asymptomatic, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, Tremor, medicine, Humans, Retrospective Studies, medicine.diagnostic_test, business.industry, Macrocephaly, Infant, Retrospective cohort study, Magnetic resonance imaging, General Medicine, Consecutive case series, medicine.disease, Magnetic Resonance Imaging, Megalencephaly, Hydrocephalus, Child, Preschool, Pediatrics, Perinatology and Child Health, Disease Progression, Muscle Hypotonia, Ataxia, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies, Ventriculomegaly
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1751457d47105b7223a42254b30ab13Test
https://doi.org/10.1055/s-0038-1660854Test
النص الكامل