المؤلفون: Romaniello, Romina, Arrigoni, Filippo, Panzeri, Elena, Poretti, Andrea, Micalizzi, Alessia, Citterio, Andrea, Bedeschi, Maria Francesca, Cusmai, Raffaella, D'Arrigo, Stefano, Ferraris, Alessandro, Hackenberg, Annette, Kuechler, Alma, Mancardi, Margherita, Nuovo, Sara, Oehl Jaschkowitz, Barbara, Rossi, Andrea, Tüttelmann, Frank, Wahl, Dagmar, Hehr, Ute, Boltshauser, Eugen, Bassi, Maria Teresa, Borgatti, Renato, BERARDINELLI, ANGELA LUCIA, SIGNORINI, SABRINA GIOVANNA, VALENTE, ENZA MARIA

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

مصطلحات موضوعية: Cerebellum, Dysplasia, Mutation, Neuroimaging, Tubulin genes

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28677066; journal:EUROPEAN RADIOLOGY; http://hdl.handle.net/11571/1194530Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85021802560

الإتاحة: https://doi.org/10.1007/s00330-017-4945-2Test
http://hdl.handle.net/11571/1194530Test

المؤلفون: Romani, Marta, Mancini, Francesca, Micalizzi, Alessia, Poretti, Andrea, Miccinilli, Elide, Accorsi, Patrizia, Avola, Emanuela, Bertini, Enrico, Borgatti, Renato, Romaniello, Romina, Ceylaner, Serdar, D'Arrigo, Stefano, Giordano, Lucio, Janecke, Andreas R, Lituania, Mario, Ludwig, Kathrin, Martorell, Loreto, Mazza, Tommaso, Odent, Sylvie, Pinelli, Lorenzo, Poo, Pilar, Santucci, Margherita, Signorini, Sabrina, Simonati, Alessandro, Spiegel, Ronen, Stanzial, Franco, Steinlin, Maja, Tabarki, Brahim, Wolf, Nicole I, Zibordi, Federica, Boltshauser, Eugen, COPPOLA, Giangennaro, VALENTE, Enza Maria

المساهمون: Romani, Marta, Mancini, Francesca, Micalizzi, Alessia, Poretti, Andrea, Miccinilli, Elide, Accorsi, Patrizia, Avola, Emanuela, Bertini, Enrico, Borgatti, Renato, Romaniello, Romina, Ceylaner, Serdar, Coppola, Giangennaro, D'Arrigo, Stefano, Giordano, Lucio, Janecke, Andreas R, Lituania, Mario, Ludwig, Kathrin, Martorell, Loreto, Mazza, Tommaso, Odent, Sylvie, Pinelli, Lorenzo, Poo, Pilar, Santucci, Margherita, Signorini, Sabrina, Simonati, Alessandro, Spiegel, Ronen, Stanzial, Franco, Steinlin, Maja, Tabarki, Brahim, Wolf, Nicole I, Zibordi, Federica, Boltshauser, Eugen, Valente, Enza Maria

مصطلحات موضوعية: Cerebellar Disease, Cohort Studie, Eye Abnormalitie, Family, Female, Follow-Up Studie, Hamartoma, Human, Hypothalamic Disease, Kidney Diseases, Cystic, Male, Membrane Protein, Mutation, Orofaciodigital Syndrome, Phenotype, Retina

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25407461; info:eu-repo/semantics/altIdentifier/wos/WOS:000347294000013; volume:134; firstpage:123-6; lastpage:126; journal:HUMAN GENETICS; http://hdl.handle.net/11386/4643521Test

الإتاحة: https://doi.org/10.1007/s00439-014-1508-3Test
http://hdl.handle.net/11386/4643521Test

المؤلفون: Romaniello, Romina, Saettini, Francesco, Panzeri, Elena, Arrigoni, Filippo, Bassi, Maria T, Borgatti, Renato

المساهمون: Romaniello, Romina, Saettini, Francesco, Panzeri, Elena, Arrigoni, Filippo, Bassi, Maria T, Borgatti, Renato

مصطلحات موضوعية: Brain, Child, Epilepsy, Female, Human, Munc18 Protein, Phenotype, Rett Syndrome, Mutation, Missense

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25714420; volume:26; issue:5; firstpage:254; lastpage:257; numberofpages:4; journal:NEUROREPORT; http://hdl.handle.net/11571/1372007Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84924973227; https://journals.lww.com/neuroreport/Fulltext/2015/03020/A_de_novo_STXBP1_gene_mutation_in_a_patient.5.aspxTest

الإتاحة: https://doi.org/10.1097/WNR.0000000000000337Test
http://hdl.handle.net/11571/1372007Test
https://journals.lww.com/neuroreport/Fulltext/2015/03020/A_de_novo_STXBP1_gene_mutation_in_a_patient.5.aspxTest

المؤلفون: Alessia Micalizzi, Maja Steinlin, Patrizia Accorsi, Lorenzo Pinelli, Serdar Ceylaner, Eugen Boltshauser, Renato Borgatti, Franco Stanzial, Ronen Spiegel, Emanuela Avola, P Póo, Enrico Bertini, Tommaso Mazza, Giangennaro Coppola, Mario Lituania, Andrea Poretti, Loreto Martorell, Marta Romani, Nicole I. Wolf, Andreas R. Janecke, Sabrina Signorini, Elide Miccinilli, Kathrin Ludwig, Brahim Tabarki, Romina Romaniello, Sylvie Odent, Alessandro Simonati, Margherita Santucci, Francesca Mancini, Stefano D'Arrigo, Federica Zibordi, Enza Maria Valente, Lucio Giordano

المساهمون: Romani, Marta, Mancini, Francesca, Micalizzi, Alessia, Poretti, Andrea, Miccinilli, Elide, Accorsi, Patrizia, Avola, Emanuela, Bertini, Enrico, Borgatti, Renato, Romaniello, Romina, Ceylaner, Serdar, Coppola, Giangennaro, D’Arrigo, Stefano, Giordano, Lucio, Janecke, Andreas R., Lituania, Mario, Ludwig, Kathrin, Martorell, Loreto, Mazza, Tommaso, Odent, Sylvie, Pinelli, Lorenzo, Poo, Pilar, Santucci, Margherita, Signorini, Sabrina, Simonati, Alessandro, Spiegel, Ronen, Stanzial, Franco, Steinlin, Maja, Tabarki, Brahim, Wolf, Nicole I., Zibordi, Federica, Boltshauser, Eugen, Valente, Enza Maria, Cytogenetics, INGEMM, Institute of Medical and Molecular Genetics, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Division of Anatomic Pathology, Department of Critical Care Medicine and Surgery, University of Florence Medical School, Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Department of Neurological and Visual Sciences, University of Verona (UNIVR), Servizio aziendale di Consulenza Genetica, Ospedale di Bolzano, Pediatric surgery, NCA - Brain mechanisms in health and disease, Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Università degli Studi di Firenze = University of Florence (UniFI), Università degli studi di Verona = University of Verona (UNIVR)

المصدر: Human Genetics
HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Genetics, Springer Verlag, 2015, 134 (1), pp.123-126. ⟨10.1007/s00439-014-1508-3⟩
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Romani, M, Mancini, F, Micalizzi, A, Poretti, A, Miccinilli, E, Accorsi, P, Avola, E, Bertini, E, Borgatti, R, Romaniello, R, Ceylaner, S, Coppola, G, D'Arrigo, S, Giordano, L, Janecke, A R, Lituania, M, Ludwig, K, Martorell, L, Mazza, T, Odent, S, Pinelli, L, Poo, P, Santucci, M, Signorini, S, Simonati, A, Spiegel, R, Stanzial, F, Steinlin, M, Tabarki, B, Wolf, N I, Zibordi, F, Boltshauser, E & Valente, E M 2015, ' Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? ', Human Genetics, vol. 134, no. 1, pp. 123-126 . https://doi.org/10.1007/s00439-014-1508-3Test
Human Genetics, 134(1), 123-126. Springer Verlag
Romani, Marta; Mancini, Francesca; Micalizzi, Alessia; Poretti, Andrea; Miccinilli, Elide; Accorsi, Patrizia; Avola, Emanuela; Bertini, Enrico; Borgatti, Renato; Romaniello, Romina; Ceylaner, Serdar; Coppola, Giangennaro; D'Arrigo, Stefano; Giordano, Lucio; Janecke, Andreas R; Lituania, Mario; Ludwig, Kathrin; Martorell, Loreto; Mazza, Tommaso; Odent, Sylvie; ... (2015). Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? Human genetics, 134(1), pp. 123-126. Springer 10.1007/s00439-014-1508-3 <http://dx.doi.org/10.1007/s00439-014-1508-3Test>
Human Genetics, 2015, 134 (1), pp.123-126. ⟨10.1007/s00439-014-1508-3⟩

مصطلحات موضوعية: Male, Proband, Oral-facial-digital type VI syndrome, [SDV]Life Sciences [q-bio], Joubert syndrome, C5orf42 gene, medicine.disease_cause, Cohort Studies, Cerebellum, Genetics(clinical), Eye Abnormalities, 610 Medicine & health, Orofaciodigital Syndrome, Membrane Protein, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), Genetics, 0303 health sciences, Mutation, Polydactyly, 030305 genetics & heredity, Hypothalamic Disease, Cerebellar Disease, Kidney Diseases, Cystic, Orofaciodigital Syndromes, Major gene, Phenotype, Kidney Diseases, Female, Hypothalamic Diseases, Human, Hamartoma, Short Report, Biology, Retina, Follow-Up Studie, Cystic, 03 medical and health sciences, Genetic, Hypothalamic hamartoma, Cerebellar Diseases, Family, Follow-Up Studies, Humans, Membrane Proteins, medicine, Abnormalities, Multiple, 030304 developmental biology, medicine.disease, Eye Abnormalitie, Cohort Studie

وصف الملف: STAMPA; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc61f9e3b6e2f3d8bcabec8fcb08ee5aTest
https://doi.org/10.1007/s00439-014-1508-3Test