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, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.pediatricneurologybriefs.com/articles/3794; https://doaj.org/toc/1043-3155; https://doaj.org/toc/2166-6482

URL الوصول: https://doaj.org/article/e2e712d39564456d9375f56ac93dc2fe

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4014574?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/6ac9c28999c1447684c274a34c5f4769

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

Relation: https://doi.org/10.1177/2329048X17725609; https://doaj.org/toc/2329-048X; https://doaj.org/article/4a30e16dd53e490c9024dc051c467e33

الاتاحة: https://doi.org/10.1177/2329048X17725609
https://doaj.org/article/4a30e16dd53e490c9024dc051c467e33

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

Relation: 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/11365/960289; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84884592278

الاتاحة: http://hdl.handle.net/11365/960289
https://doi.org/10.1038/ejhg.2012.305

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::423d7100f94d7f74a7d5bf50aa5f936b
https://doi.org/10.1002/humu.23902

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7580bc43891d9c67ae373ca8d34463c2
http://europepmc.org/articles/PMC6618151

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

المصدر: http://www.slaop.org/pdf/19517.SNC%20Apparent%20diffusion%20coefficient%20of%20pediatric%20cerebellar%20tumors%20A%20biomarker%20of%20tumor%20grade.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1089.9228; http://www.slaop.org/pdf/19517.SNC%20Apparent%20diffusion%20coefficient%20of%20pediatric%20cerebellar%20tumors%20A%20biomarker%20of%20tumor%20grade.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1089.9228
http://www.slaop.org/pdf/19517.SNC%20Apparent%20diffusion%20coefficient%20of%20pediatric%20cerebellar%20tumors%20A%20biomarker%20of%20tumor%20grade.pdf

المؤلفون: Gian Paolo Ramelli, Raphael Guzman, Yannick Hurni, Andrea Poretti, Jacques Schneider

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1751457d47105b7223a42254b30ab13
https://doi.org/10.1055/s-0038-1660854

المؤلفون: Shannon L. Dean, Andrea Poretti, Harvey S. Singer, Thierry A.G.M. Huisman

المصدر: Mov Disord Clin Pract

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neurology, business.industry, media_common.quotation_subject, Medicine, Case Reports, Neurology (clinical), Girl, business, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fc9daaec9a21cd002b18685f3c55109
https://doi.org/10.1002/mdc3.12775

المؤلفون: Biayna Sukhudyan, Varsine Jaladyan, Gayane Melikyan, Jan Ulrich Schlump, Eugen Boltshauser, Andrea Poretti

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://memberfiles.freewebs.com/84/30/96263084/documents/sukhudyan2010_GLHS_reappraisal_dx_criteria.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.462.7382; http://memberfiles.freewebs.com/84/30/96263084/documents/sukhudyan2010_GLHS_reappraisal_dx_criteria.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.462.7382
http://memberfiles.freewebs.com/84/30/96263084/documents/sukhudyan2010_GLHS_reappraisal_dx_criteria.pdf

المؤلفون: Alessia Micalizzi, Maria Margherita Mancardi, Stefano D'Arrigo, Annette Hackenberg, Andrea Rossi, Alma Kuechler, Enza Maria Valente, Eugen Boltshauser, Barbara Oehl-Jaschkowitz, Frank Tüttelmann, Andrea Citterio, Maria Teresa Bassi, Dagmar Wahl, Angela Berardinelli, Raffaella Cusmai, Andrea Poretti, Ute Hehr, Filippo Arrigoni, Elena Panzeri, Maria Francesca Bedeschi, Renato Borgatti, Sara Nuovo, Alessandro Ferraris, Sabrina Signorini, Romina Romaniello

المساهمون: University of Zurich, Borgatti, Renato

المصدر: European Radiology. 27:5080-5092

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Cerebellum, Developmental Disabilities, Medizin, Dysplasia, Mutation, Neuroimaging, Tubulin genes, 0302 clinical medicine, Tubulin, Child, Neuroradiology, biology, General Medicine, Anatomy, Middle Aged, Magnetic Resonance Imaging, medicine.anatomical_structure, Child, Preschool, Female, Adult, Brain Stem, Humans, Infant, Nervous System Malformations, Young Adult, medicine.medical_specialty, Cerebellar dysplasia, 610 Medicine & health, Lateralization of brain function, 03 medical and health sciences, medicine, 2741 Radiology, Nuclear Medicine and Imaging, Radiology, Nuclear Medicine and imaging, TUBB3, business.industry, medicine.disease, 030104 developmental biology, 10036 Medical Clinic, biology.protein, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a697638eeee5dc45590239b7a65a2b80
https://doi.org/10.1007/s00330-017-4945-2

المؤلفون: Andrea Poretti, Allen Young, Reema Goel, Thierry A.G.M. Huisman, Thangamadhan Bosemani

المصدر: Neuroradiology. 59:797-802

مصطلحات موضوعية: Male, medicine.medical_specialty, Neurology, Adolescent, Contrast Media, Sensitivity and Specificity, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, medicine, Humans, Radiology, Nuclear Medicine and imaging, Child, Cerebral Hemorrhage, Neuroradiology, Central Nervous System Vascular Malformations, medicine.diagnostic_test, business.industry, Infant, Magnetic resonance imaging, Gold standard (test), Cavernous malformations, medicine.disease, Hemangioma, Cavernous, Child, Preschool, Susceptibility weighted imaging, Female, Neurology (clinical), Radiology, Neurosurgery, Cardiology and Cardiovascular Medicine, business, Magnetic Resonance Angiography, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20a23d14ff63944734eba5a7c73fd70e
https://doi.org/10.1007/s00234-017-1867-2

المؤلفون: Becky J. Riggs, Samuel S. Shin, Renee D. Boss, Misun Hwang, Christopher R. Bailey, Shai Shrot, Andrea Poretti, Thierry A.G.M. Huisman, Emily Dunn, Bruno P. Soares, Melissa R. Spevak, Stephan Herman, Robert M. de Jong, Aylin Tekes‐Brady

المصدر: Journal of Ultrasound in Medicine. 36:2379-2386

مصطلحات موضوعية: Hypoxic ischemic, medicine.medical_specialty, Radiological and Ultrasound Technology, business.industry, Ultrasound, Improved survival, Perfusion scanning, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, medicine, Microbubbles, Radiology, Nuclear Medicine and imaging, Radiology, business, Perfusion, 030217 neurology & neurosurgery, Contrast-enhanced ultrasound

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a23bed2424767974b8f3396d9947a774
https://doi.org/10.1002/jum.14289

المؤلفون: Eleonora Aronica, Eugen Boltshauser, Frank Baas, S. Fox, Marian A. J. Weterman, Peter G. Barth, Kees Fluiter, Andrea Poretti, Douglas C. Miller, Brian Harding, Mariarita Santi

المساهمون: University of Zurich, Paediatric Neurology, APH - Mental Health, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, APH - Aging & Later Life, Pathology, Amsterdam Reproduction & Development (AR&D), Genome Analysis

المصدر: Neuropathology and Applied Neurobiology
Neuropathology and Applied Neurobiology, 43(4), 358-365
Neuropathology and applied neurobiology, 43(4), 358-365. Wiley-Blackwell

مصطلحات موضوعية: 0301 basic medicine, Cerebellum, Pathology, medicine.medical_specialty, Histology, Rhombomere, 610 Medicine & health, macromolecular substances, Biology, 2722 Histology, Pathology and Forensic Medicine, 03 medical and health sciences, Histone H3, 2737 Physiology (medical), 0302 clinical medicine, Physiology (medical), medicine, Rhombic lip, Pontine nuclei, Pons, 2734 Pathology and Forensic Medicine, 2728 Neurology (clinical), 030104 developmental biology, medicine.anatomical_structure, Neurology, 10036 Medical Clinic, 2808 Neurology, biology.protein, Neurology (clinical), Brainstem, PRC2, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15cd80810af607901e51f19bcf2c8d72
https://doi.org/10.1111/nan.12368

المؤلفون: Thierry A.G.M. Huisman, Andrea Poretti, Jane Juusola, Sonia F. Calloni, Julie S. Cohen, F. Triulzi, Avner Meoded, Ali Fatemi

المصدر: Pediatric Neurology. 70:70-74

مصطلحات موضوعية: Male, 0301 basic medicine, Ataxia, Nerve Tissue Proteins, Anterior commissure, Corpus callosum, Corpus Callosum, White matter, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Developmental Neuroscience, Neuroimaging, Pons, Image Processing, Computer-Assisted, medicine, Humans, Longitudinal Studies, Receptors, Immunologic, Child, Anatomy, medicine.disease, White Matter, Diffusion Tensor Imaging, 030104 developmental biology, medicine.anatomical_structure, nervous system, Neurology, Neurodevelopmental Disorders, Mutation, Pediatrics, Perinatology and Child Health, Anisotropy, Neurology (clinical), medicine.symptom, Psychology, 030217 neurology & neurosurgery, Diffusion MRI

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55b9b6189328fad42d4ab1a9210af00c
https://doi.org/10.1016/j.pediatrneurol.2017.01.018

المؤلفون: Andrea Poretti, Mohammad Zare Mehrjardi, Luiz Celso Hygino da Cruz, Guillaume Carteaux, Morteza Sanei Taheri, Sonia Bermudez, Heron Werner

المصدر: Japanese Journal of Radiology. 35:341-349

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neuroimaging, Disease, Myelitis, Transverse, Guillain-Barre Syndrome, Arbovirus, Virus, 030218 nuclear medicine & medical imaging, Zika virus, Diagnosis, Differential, 03 medical and health sciences, High morbidity, Flaviviridae, 0302 clinical medicine, Meningoencephalitis, medicine, Humans, Radiology, Nuclear Medicine and imaging, biology, Zika Virus Infection, business.industry, Encephalomyelitis, Acute Disseminated, Clinical course, medicine.disease, biology.organism_classification, Immunology, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd293a56587c87077c6b1a37802d715d
https://doi.org/10.1007/s11604-017-0641-z

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)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f411cb5524664f133d4356ccc1fedd69
https://doi.org/10.1002/humu.23967

المؤلفون: Frances J. Northington, Brenton Roman, Andrea Poretti, Elizabeth Cristofalo, Gwendolyn Gerner, V. Joanna Burton, Eric I. Newman, Thierry A.G.M. Huisman, Michael V. Johnston, Mary Leppert

المصدر: J Child Neurol

مصطلحات موضوعية: Male, medicine.medical_specialty, Encephalopathy, Pilot Projects, behavioral disciplines and activities, Hypoxic Ischemic Encephalopathy, Article, White matter, 03 medical and health sciences, 0302 clinical medicine, Hypothermia, Induced, 030225 pediatrics, Internal medicine, mental disorders, Medicine, Humans, Learning, Prospective Studies, Asphyxia, Asphyxia Neonatorum, business.industry, White Matter Injury, Infant, Newborn, Hypothermia, medicine.disease, White Matter, medicine.anatomical_structure, Diffusion Tensor Imaging, Treatment Outcome, nervous system, Motor Skills, Pediatrics, Perinatology and Child Health, Hypoxia-Ischemia, Brain, Cardiology, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, psychological phenomena and processes, Diffusion MRI

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d78d021ff2ebbecaa08c6553221029d
https://pubmed.ncbi.nlm.nih.gov/31070085

المؤلفون: Andrea Poretti, Thierry A.G.M. Huisman, Edward Araujo Júnior, Elham Keshavarz, Heron Werner, Mohammad Zare Mehrjardi

المصدر: Japanese Journal of Radiology. 35:89-94

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neuroimaging, Corpus callosum, Asymptomatic, Zika virus, 03 medical and health sciences, 0302 clinical medicine, Polymicrogyria, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Arthrogryposis, 030219 obstetrics & reproductive medicine, biology, Zika Virus Infection, business.industry, Zika Virus, medicine.disease, biology.organism_classification, Hypoplasia, Agenesis, Microcephaly, medicine.symptom, business, 030217 neurology & neurosurgery, Ventriculomegaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ddc35ac529fa6c3edc6bad79ccc3220
https://doi.org/10.1007/s11604-016-0609-4

المؤلفون: Jane E. Benson, Matthias W. Wagner, Thierry A. G. M. Huisman, Andrea Poretti

المصدر: Journal of Neuroimaging. 27:162-209

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Central nervous system, CNS Involvement, Disease, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Abnormal size, Neuroimaging, Epiphysis, OMIM : Online Mendelian Inheritance in Man, medicine, Radiology, Nuclear Medicine and imaging, Neurology (clinical), Abnormality, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ec657cb19cc089a226716237d24afc83
https://doi.org/10.1111/jon.12413