المؤلفون: Roosing, Susanne, Hofree, Matan, Kim, Sehyun, Scott, Eric, Copeland, Brett, Romani, Marta, Silhavy, Jennifer L, Rosti, Rasim O, Schroth, Jana, Mazza, Tommaso, Miccinilli, Elide, Zaki, Maha S, Swoboda, Kathryn J, Milisa-Drautz, Joanne, Dobyns, William B, Mikati, Mohamed A, İncecik, Faruk, Azam, Matloob, Borgatti, Renato, Romaniello, Romina, Boustany, Rose-Mary, Clericuzio, Carol L, D'Arrigo, Stefano, Strømme, Petter, Boltshauser, Eugen, Stanzial, Franco, Mirabelli-Badenier, Marisol, Moroni, Isabella, Bertini, Enrico, Emma, Francesco, Steinlin, Maja, Hildebrandt, Friedhelm, Johnson, Colin A, Freilinger, Michael, Vaux, Keith K, Gabriel, Stacey B, Aza-Blanc, Pedro, Heynen-Genel, Susanne, Ideker, Trey, Dynlacht, Brian D, Lee, Ji Eun, Valente, Enza Maria, Kim, Joon, Gleeson, Joseph G

المصدر: Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L; Rosti, Rasim O; Schroth, Jana; Mazza, Tommaso; Miccinilli, Elide; Zaki, Maha S; Swoboda, Kathryn J; Milisa-Drautz, Joanne; Dobyns, William B; Mikati, Mohamed A; İncecik, Faruk; Azam, Matloob; Borgatti, Renato; Romaniello, Romina; Boustany, Rose-Mary; Clericuzio, Carol L; D'Arrigo, Stefano; Strømme, Petter; Boltshauser, Eugen; Stanzial, Franco; Mirabelli-Badenier, Marisol; Moroni, Isabella; Bertini, Enrico; Emma, Francesco; Steinlin, Maja; Hildebrandt, Friedhelm; Johnson, Colin A; Freilinger, Michael; Vaux, Keith K; Gabriel, Stacey B; Aza-Blanc, Pedro; Heynen-Genel, Susanne; Ideker, Trey; Dynlacht, Brian D; Lee, Ji Eun; Valente, Enza Maria; Kim, Joon; ....

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/121020/1/RoosingS,%202015.pdfTest; info:pmid/26026149; urn:issn:2050-084X

الإتاحة: https://doi.org/10.5167/uzh-12102010.7554/eLife.06602Test
https://www.zora.uzh.ch/id/eprint/121020Test/
https://www.zora.uzh.ch/id/eprint/121020/1/RoosingS,%202015.pdfTest

المؤلفون: 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

المصدر: 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

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/79375Test/

الإتاحة: https://doi.org/10.1007/s00439-014-1508-3Test
https://boris.unibe.ch/79375/1/art%253A10.1007%252Fs00439-014-1508-3.pdfTest
https://boris.unibe.ch/79375Test/

المؤلفون: Poretti, Andrea, Vitiello, Giuseppina, Hennekam, Raoul C M, Arrigoni, Filippo, Bertini, Enrico, Borgatti, Renato, Brancati, Francesco, D'Arrigo, Stefano, Faravelli, Francesca, Giordano, Lucio, Huisman, Thierry A G M, Iannicelli, Miriam, Kluger, Gerhard, Kyllerman, Marten, Landgren, Magnus, Lees, Melissa M, Pinelli, Lorenzo, Romaniello, Romina, Scheer, Ianina, Schwarz, Christoph E, Spiegel, Ronen, Tibussek, Daniel, Valente, Enza Maria, Boltshauser, Eugen

المصدر: Poretti, Andrea; Vitiello, Giuseppina; Hennekam, Raoul C M; Arrigoni, Filippo; Bertini, Enrico; Borgatti, Renato; Brancati, Francesco; D'Arrigo, Stefano; Faravelli, Francesca; Giordano, Lucio; Huisman, Thierry A G M; Iannicelli, Miriam; Kluger, Gerhard; Kyllerman, Marten; Landgren, Magnus; Lees, Melissa M; Pinelli, Lorenzo; Romaniello, Romina; Scheer, Ianina; Schwarz, Christoph E; Spiegel, Ronen; Tibussek, Daniel; Valente, Enza Maria; Boltshauser, Eugen (2012). Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet Journal of Rare Diseases, 7:4.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/73303/1/1750-1172-7-4.pdfTest; info:pmid/22236771; urn:issn:1750-1172

الإتاحة: https://doi.org/10.5167/uzh-7330310.1186/1750-1172-7-4Test
https://www.zora.uzh.ch/id/eprint/73303Test/
https://www.zora.uzh.ch/id/eprint/73303/1/1750-1172-7-4.pdfTest

المؤلفون: Arrigoni, Filippo, Romaniello, Romina, Peruzzo, Denis, Poretti, Andrea, Bassi, Maria Teresa, Pierpaoli, Carlo, Valente, Enza Maria, Nuovo, Sara, Boltshauser, Eugen, Huisman, Thierry André Gerard Marie, Triulzi, Fabio, Borgatti, Renato

المصدر: Arrigoni, Filippo; Romaniello, Romina; Peruzzo, Denis; Poretti, Andrea; Bassi, Maria Teresa; Pierpaoli, Carlo; Valente, Enza Maria; Nuovo, Sara; Boltshauser, Eugen; Huisman, Thierry André Gerard Marie; Triulzi, Fabio; Borgatti, Renato (2019). The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis. European Radiology, 29(2):770-782.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

العلاقة: https://www.zora.uzh.ch/161996Test; info:pmid/30066250; urn:issn:0938-7994

الإتاحة: https://doi.org/10.1007/s00330-018-5610-0Test
https://www.zora.uzh.ch/id/eprint/161996Test/
https://www.zora.uzh.ch/161996Test

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

المصدر: Romaniello, Romina; Arrigoni, Filippo; Panzeri, Elena; Poretti, Andrea; Micalizzi, Alessia; Citterio, Andrea; Bedeschi, Maria Francesca; Berardinelli, Angela; Cusmai, Raffaella; D'Arrigo, Stefano; Ferraris, Alessandro; Hackenberg, Annette; Kuechler, Alma; Mancardi, Margherita; Nuovo, Sara; Oehl-Jaschkowitz, Barbara; Rossi, Andrea; Signorini, Sabrina; Tüttelmann, Frank; Wahl, Dagmar; Hehr, Ute; Boltshauser, Eugen; Bassi, Maria Teresa; Valente, Enza Maria; Borgatti, Renato (2017). Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. European Radiology, 27(12):5093.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

العلاقة: https://www.zora.uzh.ch/146940Test; info:pmid/28900662; urn:issn:0938-7994

الإتاحة: https://doi.org/10.1007/s00330-017-4986-6Test
https://www.zora.uzh.ch/id/eprint/146940Test/
https://www.zora.uzh.ch/146940Test

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

المصدر: Romaniello, Romina; Arrigoni, Filippo; Panzeri, Elena; Poretti, Andrea; Micalizzi, Alessia; Citterio, Andrea; Bedeschi, Maria Francesca; Berardinelli, Angela; Cusmai, Raffaella; D'Arrigo, Stefano; Ferraris, Alessandro; Hackenberg, Annette; Kuechler, Alma; Mancardi, Margherita; Nuovo, Sara; Oehl-Jaschkowitz, Barbara; Rossi, Andrea; Signorini, Sabrina; Tüttelmann, Frank; Wahl, Dagmar; Hehr, Ute; Boltshauser, Eugen; Bassi, Maria Teresa; Valente, Enza Maria; Borgatti, Renato (2017). Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. European Radiology, 27(12):5080-5092.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

العلاقة: https://www.zora.uzh.ch/146937Test; info:pmid/28677066; urn:issn:0938-7994

الإتاحة: https://doi.org/10.1007/s00330-017-4945-2Test
https://www.zora.uzh.ch/id/eprint/146937Test/
https://www.zora.uzh.ch/146937Test

المؤلفون: Micalizzi, Alessia, Poretti, Andrea, Romani, Marta, Ginevrino, Monia, Mazza, Tommaso, Aiello, Chiara, Zanni, Ginevra, Baumgartner, Bastian, Borgatti, Renato, Brockmann, Knut, Camacho, Ana, Cantalupo, Gaetano, Haeusler, Martin, Hikel, Christiane, Klein, Andrea, Mandrile, Giorgia, Mercuri, Eugenio, Rating, Dietz, Romaniello, Romina, Santorelli, Filippo Maria, Schimmel, Mareike, Spaccini, Luigina, Teber, Serap, von Moers, Arpad, Wente, Sarah, Ziegler, Andreas, Zonta, Andrea, Bertini, Enrico, Boltshauser, Eugen, Valente, Enza Maria

المصدر: Micalizzi, Alessia; Poretti, Andrea; Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria (2016). Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome). European Journal of Human Genetics, 24(9):1262-1267.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/134810/1/MicalizziA_2016.pdfTest; info:pmid/26932191; urn:issn:1018-4813

الإتاحة: https://doi.org/10.5167/uzh-13481010.1038/ejhg.2016.19Test
https://www.zora.uzh.ch/id/eprint/134810Test/
https://www.zora.uzh.ch/id/eprint/134810/1/MicalizziA_2016.pdfTest

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