المؤلفون: L. Parmeggiani, F. Stanzial, E. Menna, E. Boni, F. Manzoni, F. Benedicenti, S. Pellegrin

المصدر: Epilepsy & Behavior Reports, Vol 24, Iss , Pp 100634- (2023)

مصطلحات موضوعية: SMC1A, Developmental and epileptic encephalopathy, Epilepsy, Neurodevelopmental disorder, Developmental regression, PCDH19-related epilepsy, Neurology. Diseases of the nervous system, RC346-429, Neurophysiology and neuropsychology, QP351-495

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2589986423000527Test; https://doaj.org/toc/2589-9864Test

الوصول الحر: https://doaj.org/article/d48d14f969f14c869dbad19bffa05af2Test

المؤلفون: M. Grandis, L. Obici, M. Luigetti, C. Briani, F. Benedicenti, G. Bisogni, M. Canepa, F. Cappelli, C. Danesino, G. M. Fabrizi, S. Fenu, G. Ferrandes, C. Gemelli, F. Manganelli, A. Mazzeo, L. Melchiorri, F. Perfetto, L. G. Pradotto, P. Rimessi, G. Tini, S. Tozza, L. Trevisan, D. Pareyson, P. Mandich

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Attrv, Hereditary transthyretin amyloidosis, Pre-symptomatic genetic testing, PST, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/06f1cac9f11446abaa06ec95182536f4Test

المؤلفون: Marco Bonomi, Valeria Vezzoli, Csilla Krausz, Fabiana Guizzardi, Silvia Vezzani, Manuela Simoni, Ivan Bassi, Paolo Duminuco, Natascia Di Iorgi, Claudia Giavoli, Alessandro Pizzocaro, Gianni Russo, Mirella Moro, Letizia Fatti, Alberto Ferlin, Laura Mazzanti, Maria Chiara Zatelli, Salvo Cannavò, Andrea M Isidori, Angela Ida Pincelli, Flavia Prodam, Antonio Mancini, Paolo Limone, Maria Laura Tanda, Rossella Gaudino, Mariacarolina Salerno, Pregnolato Francesca, Mohamad Maghnie, Mario Maggi, Luca Persani, G Aimaretti, M Altobelli, M R Ambrosio, M Andrioli, G Angeletti, F Arecco, G Arnaldi, M Arosio, A Balsamo, M Baldassarri, L Bartalena, N Bazzoni, L Beccaria, P Beck-Peccoz, G Bellastella, M Bellizzi, F Benedicenti, S Bernasconi, C Bizzarri, G Bona, S Bonadonna, G Borretta, M Boschetti, A Brunani, V Brunelli, F Buzi, C Cacciatore, B Cangiano, M Cappa, R Casalone, A Cassio, P Cavarzere, V Cherubini, T Ciampani, D Cicognani, A Cignarelli, M Cisternino, P Colombo, S Corbetta, N Corciulo, G Corona, R Cozzi, C Crivellaro, I Dalle Mule, L Danesi, A V D’Elia, E degli Uberti, S De Leo, E Della Valle, M De Marchi, N Di Iorgi, A Di Mambro, A Fabbri, C Foresta, G Forti, A R Franceschi, A Garolla, M Ghezzi, C Giacomozzi, M Giusti, E Grosso, G Guabello, M P Guarneri, G Grugni, A M Isidori, F Lanfranco, A Lania, R Lanzi, L Larizza, A Lenzi, S Loche, P Loli, V Lombardi, M C Maggio, G Mandrile, C Manieri, G Mantovani, S Marelli, M Marzullo, M A Mencarelli, N Migone, G Motta, G Neri, G Padova, G Parenti, B Pasquino, A Pia, E Piantanida, E Pignatti, A Pilotta, B Pivetta, M Pollazzon, A Pontecorvi, P Porcelli, G B Pozzan, G Pozzobon, G Radetti, P Razzore, L Rocchetti, R Roncoroni, G Rossi, E Sala, A Salvatoni, F Salvini, A Secco, M Segni, R Selice, P Sgaramella, F Sileo, A A Sinisi, F Sirchia, A Spada, A Tresoldi, R Vigneri, G Weber, S Zucchini

المساهمون: Bonomi, Marco, Vezzoli, Valeria, Krausz, Csilla, Guizzardi, Fabiana, Vezzani, Silvia, Simoni, Manuela, Bassi, Ivan, Duminuco, Paolo, Di Iorgi, Natascia, Giavoli, Claudia, Pizzocaro, Alessandro, Russo, Gianni, Moro, Mirella, Fatti, Letizia, Ferlin, Alberto, Mazzanti, Laura, Zatelli Maria, Chiara, Cannavò, Salvo, Isidori Andrea, M., Pincelli Angela, Ida, Prodam, Flavia, Mancini, Antonio, Limone, Paolo, Tanda Maria, Laura, Gaudino, Rossella, Salerno, Mariacarolina, Francesca, Pregnolato, Maghnie, Mohamad, Maggi, Mario, Persani, Luca, Italian Network on Central, Hypogonadism., Zatelli, Maria Chiara, Cannavã², Salvo, Isidori, Andrea M., Pincelli, Angela Ida, Tanda, Maria Laura, Aimaretti, G., Altobell, M., Ambrosio, M. R., Andrioli, M., Angelett, G., Arecco, F., Arnald, G., Arosio, M., Balsamo, A., Baldassarr, M., Bartalena, L., Bazzon, N., Beccari, L., Beck-Peccoz, P., Bellastella, G., Bellizz, M., Benedicent, F., Bernasconi, S., Bizzarri, C., Bona, G., Bonadonna, S., Borrett, G., Boschetti, M., Brunani, A., Brunelli, V., Buz, F., Cacciatore, C., Cangiano, B., Cappa, M., Casalone, R., Cassio, A., Cavarzere, P., Cherubini, V., Ciampani, T., Cicognan, D., Cignarell, A., Cisternin, M., Colombo, P., Corbetta, S., Corciul, N., Corona, G., Cozzi, R., Crivellaro, C., Dalle Mule, I., Danesi, L., Eli, A. V. D., Degli Uberti, E., De Leo, S., Della Valle, E., De Marchi, M., Di Iorgi, N., Di Mambr, A., Fabbri, A., Foresta, C., Forti, G., Franceschi, A. R., Garolla, A., Ghezzi, M., Giacomozzi, C., Giusti, M., Grosso, E., Guabello, G., Guarneri, M. P., Grugni, G., Isidori, A. M., Lanfranco, F., Lania, A., Lanzi, R., Larizza, L., Lenzi, A., Loche, S., Loli, P., Lombardi, V., Maggi, M. C., Mandrile, G., Manieri, C., Mantovani, G., Marelli, S., Marzullo, M., Mencarelli, M. A., Migone, N., Motta, G., Neri, G., Padov, G., Parenti, G., Pasquino, B., Pia, A., Piantanida, E., Pignatti, E., Pilotta, A., Pivett, B., Pollazzon, M., Pontecorvi, A., Porcelli, P., Pozza, G. B., Pozzobon, G., Radetti, G., Razzore, P., Rocchett, L., Roncoron, R., Rossi, G., Sala, E., Salvatoni, A., Salvini, F., Secc, A., Segni, M., Selice, R., Sgaramella, P., Sileo, F., Sinisi, A. A., Sirchia, F., Spada, A., Tresoldi, A., Vigneri, R., Weber, G., Zucchini, S., Marco Bonomi, Valeria Vezzoli, Csilla Krausz, Fabiana Guizzardi, Silvia Vezzani, Manuela Simoni, Ivan Bassi, Paolo Duminuco, Natascia Di Iorgi, Claudia Giavoli, Alessandro Pizzocaro, Gianni Russo, Mirella Moro, Letizia Fatti, Alberto Ferlin, Laura Mazzanti, Maria Chiara Zatelli, Salvo Cannavò, Andrea M Isidori, Angela Ida Pincelli, Flavia Prodam, Antonio Mancini, Paolo Limone, Maria Laura Tanda, Rossella Gaudino, Mariacarolina Salerno, Pregnolato Francesca, Mohamad Maghnie, Mario Maggi, Luca Persani, Italian Network on Central Hypogonadism […, A. Cassio, …, S. Zucchini, ], Isidori, Andrea M, Weber, Giovanna, Italian Network on Central, Hypogonadism

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Synkinesis, Kallmann syndrome, diagnosis, genotype, Endocrinology, Diabetes and Metabolism, Gonadal Steroid Hormone, Cohort Studies, Olfaction Disorders, 0302 clinical medicine, Endocrinology, Olfaction Disorder, Young adult, Age of Onset, Gonadal Steroid Hormones, Gonadotropin, Pituitary Hormone, Isolated hypogonadotropic hypogonadism, General Medicine, isolated hypogonadotropic hypogonadism, pubertal delay, genetic-basis, gonadotropin-deficiency, Diabetes and Metabolism, Phenotype, Italy, Cohort, Female, complex, Cohort study, Human, Adult, medicine.medical_specialty, Adolescent, Gonadotropins, Humans, Hypogonadism, Obesity, Overweight, Pituitary Hormones, Young Adult, 030209 endocrinology & metabolism, NO, 03 medical and health sciences, Hypogonadotropic hypogonadism, Adolescent, Adult, Age of Onset, Cohort Studies, Female, Gonadal Steroid Hormones, Gonadotropins, Humans, Hypogonadis, Italy, Male, Obesity, Olfaction Disorders, Overweight, Phenotype, Pituitary Hormones, Synkinesis, Young Adult, Endocrinology, Diabetes and Metabolism, Endocrinology, Internal medicine, medicine, Isolated hypogonadotropic hypogonadism, Kallmann syndrome, Observational cohort study, gnrh deficiency, disease, business.industry, Settore MED/13 - ENDOCRINOLOGIA, isolated Hypogonadotropic hypogonadism, kallmann syndrome, medicine.disease, body regions, 030104 developmental biology, Sex steroid, linked kallmann-syndrome, heterogeneity, phenotype, Observational cohort study, Synkinesi, Age of onset, Cohort Studie, business

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f800b3107977776e40dbca2a965ea877Test
http://hdl.handle.net/11383/2066625Test

المؤلفون: A. Lattanzi, C. Salvagno, C. Maderna, F. Benedicenti, MORENA, FRANCESCO, W. Kulik, L. Naldini, E. Montini, MARTINO, Sabata, A. Gritti

المساهمون: A., Lattanzi, C., Salvagno, C., Maderna, F., Benedicenti, Morena, Francesco, W., Kulik, L., Naldini, E., Montini, Martino, Sabata, A., Gritti

مصطلحات موضوعية: ENZYME REPLACEMENT THERAPY, GENE THERAPY, CENTRAL-NERVOUS-SYSTEM, MEDICINE REGENERATIVE, BONE-MARROW-TRANSPLANTATION, KRABBE-DISEASE, METACHROMATIC-LEUKODYSTROPHY, Lysosomal enzymes

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24463623; info:eu-repo/semantics/altIdentifier/wos/WOS:000337038600016; volume:23; issue:12; firstpage:3250; lastpage:3268; numberofpages:19; journal:HUMAN MOLECULAR GENETICS; https://hdl.handle.net/11391/1189877Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84901292902

الإتاحة: https://doi.org/10.1093/hmg/ddu034Test
https://hdl.handle.net/11391/1189877Test

المؤلفون: L. Micale, B. Augello, C. Maffeo, A. Selicorni, F. Zucchetti, C. Fusco, P. De Nittis, MT Pellico, B. Mandriani, R. Fischetto, L. Boccone, M. Silengo, E. Biamino, C. Perria, S. Sotgiu, G. Serra, E. Lapi, ML Cavaliere, P. Chiurazzi, MD Monica, G. Scarano, F. Faravelli, P. Ferrari, L. Mazzanti, A. Pilotta, MG Patricelli, MF Bedeschi, F. Benedicenti, P. Prontera, B. Toschi, L. Salviati, D. Melis, E. Di Battista, A. Vancini, L. Garavelli, L. Zelante, G. Merla, NERI, Marcella, FERLINI, Alessandra

المساهمون: L., Micale, B., Augello, C., Maffeo, A., Selicorni, F., Zucchetti, C., Fusco, P., De Nitti, Mt, Pellico, B., Mandriani, R., Fischetto, L., Boccone, M., Silengo, E., Biamino, C., Perria, S., Sotgiu, G., Serra, E., Lapi, Neri, Marcella, Ferlini, Alessandra, Ml, Cavaliere, P., Chiurazzi, Md, Monica, G., Scarano, F., Faravelli, P., Ferrari, L., Mazzanti, A., Pilotta, Mg, Patricelli, Mf, Bedeschi, F., Benedicenti, P., Prontera, B., Toschi, L., Salviati, D., Meli, E., Di Battista, A., Vancini, L., Garavelli, L., Zelante, G., Merla

مصطلحات موضوعية: KDM6A, KMT2D, Kabuki syndrome, haploinsufficiency, readthrough

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000337705500010; volume:35; issue:7; firstpage:841; lastpage:850; numberofpages:10; journal:HUMAN MUTATION; http://hdl.handle.net/11392/1990212Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84902074147

الإتاحة: https://doi.org/10.1002/humu.22547Test
http://hdl.handle.net/11392/1990212Test

المؤلفون: NOVARA, FRANCESCA, F. Stanzial, ROSSI, ELENA, F. Benedicenti, F. Inzana, E. D. Gregorio, A. Brusco, J. Graakjaer, C. Fagerberg, E. Belligni, M. Silengo, ZUFFARDI, ORSETTA, CICCONE, ROBERTO

المساهمون: Novara, Francesca, F., Stanzial, Rossi, Elena, F., Benedicenti, F., Inzana, E. D., Gregorio, A., Brusco, J., Graakjaer, C., Fagerberg, E., Belligni, M., Silengo, Zuffardi, Orsetta, Ciccone, Roberto

مصطلحات موضوعية: NSD1, Sotos syndrome, array-CGH

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24819041; info:eu-repo/semantics/altIdentifier/wos/WOS:000340667900077; volume:164A; issue:8; firstpage:2084; lastpage:2090; numberofpages:7; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11571/986306Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84904389855; http://dx.doi.org/10.1002/ajmg.a.36591Test

الإتاحة: https://doi.org/10.1002/ajmg.a.36591Test
http://hdl.handle.net/11571/986306Test

المؤلفون: S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi

المساهمون: IANNICELLI M, BRANCATI F, MOUGOU-ZERELLI S, MAZZOTTA A, THOMAS S, ELKHARTOUFI N, TRAVAGLINI L, GOMES C, ARDISSINO GL, BERTINI E, BOLTSHAUSER E, CASTORINA P, D'ARRIGO S, FISCHETTO R, LEROY B, LOGET P, BONNIÈRE M, STARCK L, TANTAU J, GENTILIN B, MAJORE S, SWISTUN D, FLORI E, LALATTA F, PANTALEONI C, PENZIEN J, GRAMMATICO P, INTERNATIONAL JSRD STUDY GROUP, DALLAPICCOLA B, GLEESON JG, ATTIE-BITACH T, VALENTE EM. COLLABORATORS: ALI PACHA L, TAZIR M, ZANKL A, LEVENTER R, GRATTAN-SMITH P, JANECKE A, D'HOOGHE M, SZNAJER Y, VAN COSTER R, DEMERLEIR L, DIAS K, MOCO C, MOREIRA A, AE KIM C, MAEGAWA G, LONCAREVIC D, MEJASKI-BOSNJAK V, PETKOVIC D, ABDEL-SALAM GM, ABDEL-ALEEM A, ZAKI MS, MARTI I, QUIJANO-ROY S, SIGAUDY S, DE LONLAY P, ROMANO S, VERLOES A, TOURAINE R, KOENIG M, LAGIER-TOURENNE C, MESSER J, COLLIGNON P, WOLF N, PHILIPPI H, LEMKE J, DACOU-VOUTETAKIS C, KITSIOU TZELI S, PONS R, SZTRIHA L, HALLDORSSON S, JOHANNSDOTTIR J, LUDVIGSSON P, PHADKE SR, UDANI V, STUART B, MAGEE A, LEV D, MICHELSON M, BEN-ZEEV B, DI GIACOMO M, GENTILE M, GUANTI G, D'ADDATO O, PAPADIA F, SPANO M, BERNARDI F, SERI M, BENEDICENTI F, STANZIAL F, BORGATTI R, ACCORSI P, BATTAGLIA S, FAZZI E, GIORDANO L, IZZI C, PINELLI L, BOCCONE L, GUANCIALI P, ROMOLI R, BIGONI S, FERLINI A, ANDREUCCI E, DONATI MA, GENUARDI M, CARIDI G, DIVIZIA MT, FARAVELLI F, GHIGGERI G, PESSAGNO, AMORINI M, BRIGUGLIO M, BRIUGLIA S, RIGOLI L, SALPIETRO C, TORTORELLA G, ADAMI A, MARRA G, RIVA D, SCELSA B, SPACCINI L, UZIEL G, COPPOLA G, DEL GIUDICE E, VITIELLO G, LAVERDA AM, LUDWIG K, PERMUNIAN A, SUPPIEJ A, MACALUSO C, SIGNORINI S, UGGETTI C, BATTINI R, PRIOLO M, CILIO MR, D'AMICO A, DI SABATO ML, EMMA F, LEUZZI V, PARISI P, STRINGINI G, ZANNI G, POLLAZZON M, RENIERI A, VASCOTTO M, SILENGO M, DE VESCOVI R, GRECO D, ROMANO C, CAZZAGON M, SIMONATI A, AL-TAWARI AA, BASTAKI L, MÉGARBANÉ A, MATULEVICIENE A, SABOLIC AVRAMOVSKA V, SAID E, DE JONG MM, PRESCOTT T, STROMME P, VON DER LIPPE C, KOUL R, RAJAB A, AZAM M, BARBOT C, JOCIC-JAKUBI B, GENER QUEROL B, MARTORELL SAMPOL L, RODRIGUEZ B, PASCUAL-CASTROVIEJO I, STROZZI S, FLUSS J, TEBER S, TOPCU M, ANLAR B, COMU S, KARACA E, KAYSERILI H, YÜKSEL A, AKGUL M, AKCAKUS M, AL GAZALI L, NICHOLL D, WOODS CG, BENNETT C, HURST J, SHERIDAN E, BARNICOAT A, CARR L, HENNEKAM R, LEES M, MCKAY F, YATES L, BLAIR E, BERNES S, SANCHEZ H, CLARK AE, DEMARCO E, DONAHUE C, SHERR E, HAHN J, SANGER TD, GALLAGER TE, DOBYNS WB, DAUGHERTY C, KRISHNAMOORTHY KS, SARCO D, WALSH CA, MCKANNA T, MILISA J, CJUNG WK, DE VIVO DC, RAYNES H, SCHUBERT R, SEWARD A, BROOKS DG, GOLDSTEIN A, CALDWELL J, FINSECKE E, MARIA BL, HOLDEN K, CRUSE RP, SWOBODA KJ, VISKOCHIL D., Pediatric surgery, NCA - Childhood White Matter Diseases, Iannicelli, M, Brancati, F, Mougou Zerelli, S, Mazzotta, A, Thomas, S, Elkhartoufi, N, Travaglini, L, Gomes, C, Ardissino, Gl, Bertini, E, Boltshauser, E, Castorina, P, D'Arrigo, S, Fischetto, R, Leroy, B, Loget, P, Bonnière, M, Starck, L, Tantau, J, Gentilin, B, Majore, S, Swistun, D, Flori, E, Lalatta, F, Pantaleoni, C, Penzien, J, Grammatico, P, Dallapiccola, B, Gleeson, Jg, Attie Bitach, T, Valente, Em, International JSRD Study, Group, DEL GIUDICE, Ennio, University of Zurich, Attie-Bitach, T

المصدر: International JSRD Study Group 2010, ' Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies ', Human Mutation, vol. 31, no. 5, pp. E1319-E1331 . https://doi.org/10.1002/humu.21239Test
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.

مصطلحات موضوعية: Liver Cirrhosis, 2716 Genetics (clinical), meckelin, Ciliopathies, Joubert syndrome, Genotype, congenital hepatic fibrosis, coach syndrome, mks3, meckel syndrome, joubert syndrome, tmem67, TMEM67, Meckel syndrome, DNA Mutational Analysis, 610 Medicine & health, Biology, medicine.disease_cause, MKS3, COACH syndrome, Article, NO, 1311 Genetics, Nephronophthisis, Pregnancy, Prenatal Diagnosis, Genetics, medicine, COACH syndrome, Congenital hepatic fibrosis, Joubert syndrome, Meckel syndrome, MKS3, TMEM67, Missense mutation, Humans, Abnormalities, Multiple, Genetics (clinical), Mutation, Cilium, Membrane Proteins, Kidney Diseases, Cystic, medicine.disease, Phenotype, 10036 Medical Clinic, Female

وصف الملف: ELETTRONICO; IannicelliM,_2010.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f64992e7a2eb93dc8f809d7d786fcfTest
https://doi.org/10.1002/humu.21239Test

المؤلفون: A. Biffi, E. Montini, L. Lorioli, M. Cesani, F. Fumagalli, T. Plati, C. Baldoli, MARTINO, Sabata, A. Calabria, S. Canale, F. Benedicenti, G. Vallanti, L. Biasco, S. Leo, N. Kabbara, G. Zanetti, W. B. Rizzo, N. A. L. Mehta, M. P. Cicalese, M. Casiraghi, J. J. Boelens, U. Del Carro, D. J. Dow, M. Schmidt, A. Assanelli, V. Neduva, C. Di Serio, E. Stupka, J. Gardner, C. von Kalle, C. Bordignon, F. Ciceri, A. Rovelli, M. G. Roncarolo, A. Aiuti, M. Sessa, L. Naldini

المساهمون: A., Biffi, E., Montini, L., Lorioli, M., Cesani, F., Fumagalli, T., Plati, C., Baldoli, Martino, Sabata, A., Calabria, S., Canale, F., Benedicenti, G., Vallanti, L., Biasco, S., Leo, N., Kabbara, G., Zanetti, W. B., Rizzo, N. A. L., Mehta, M. P., Cicalese, M., Casiraghi, J. J., Boelen, U., Del Carro, D. J., Dow, M., Schmidt, A., Assanelli, V., Neduva, C., Di Serio, E., Stupka, J., Gardner, C., von Kalle, C., Bordignon, F., Ciceri, A., Rovelli, M. G., Roncarolo, A., Aiuti, M., Sessa, L., Naldini

مصطلحات موضوعية: lipid storage restoration, arylsulfatase A activity in CSF, lysosomal enzymes

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000323370600034; volume:341; issue:6148; firstpage:1233158; numberofpages:16; journal:SCIENCE; https://hdl.handle.net/11391/1134672Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84879873039

الإتاحة: https://doi.org/10.1126/science.1233158Test
https://hdl.handle.net/11391/1134672Test

المؤلفون: L. Pedace, E. Pozzetto, A. Amantea, G. Zambruno, N. Preziosi, F. Benedicenti, S. Boni, D. De Brasi, C. Panetta, C. Ferraro, C. De Bernardo, BARBONI, Luana, CASTORI, MARCO, GRAMMATICO, Paola

المساهمون: L., Pedace, Barboni, Luana, E., Pozzetto, A., Amantea, G., Zambruno, N., Preziosi, F., Benedicenti, S., Boni, D., De Brasi, C., Panetta, C., Ferraro, C., De Bernardo, Castori, Marco, Grammatico, Paola

مصطلحات موضوعية: deletion, genodermatosi, nonsense, splice-site mutation, duplication, missense, splicesite mutation, darier disease, atp2a2

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21527373; info:eu-repo/semantics/altIdentifier/wos/WOS:000293836300003; volume:21; issue:3; firstpage:334; lastpage:338; numberofpages:5; journal:EUROPEAN JOURNAL OF DERMATOLOGY; http://hdl.handle.net/11573/377418Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79960805177; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000293836300003&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-79960805177&partnerID=65&md5=073c905d1172bfde22a2a0def81a15ecTest

الإتاحة: https://doi.org/10.1684/ejd.2011.1339Test
http://hdl.handle.net/11573/377418Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000293836300003&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-79960805177&partnerID=65&md5=073c905d1172bfde22a2a0def81a15ecTest

المؤلفون: L. Travaglini, T. Attie Bitach, S. Audollent, E. Bertini, J. Kaplan, I. Perrault, M. Iannicelli, B. Mancuso, L. Rigoli, J. Rozet, D. Swistun, J. Tolentino, B. Dallapiccola, J. G. Gleeson, E. M. Valente, I. J. Study, A. Zankl, R. Leventer, P. Grattan Smith, A. Janecke, M. D'Hooghe, Y. Sznajer, R. V. Coster, L. Demerleir, K. Dias, C. Moco, A. Moreira, C. A. Kim, G. Maegawa, D. Petkovic, G. M. H, A. Abdel Aleem, M. S. Zaki, I. Marti, S. Quijano Roy, S. Sigaudy, P. d. Lonlay, S. Romano, R. Touraine, M. Koenig, C. Lagier Tourenne, J. Messer, P. Collignon, N. Wolf, H. Philippi, S. K. Tzeli, S. Halldorsson, J. Johannsdottir, P. Ludvigsson, S. R. Phadke, V. Udani, B. Stuart, A. Magee, D. Lev, M. Michelson, B. Ben Zeev, R. Fischetto, F. Benedicenti, F. Stanzial, R. Borgatti, P. Accorsi, S. Battaglia, E. Fazzi, L. Giordano, L. Pinelli, L. Boccone, S. Bigoni, A. Ferlini, M. A. Donati, G. Caridi, M. T. Divizia, F. Faravelli, G. Ghiggeri, A. Pessagno, M. Briguglio, S. Briuglia, C. D. Salpietro, G. Tortorella, A. Adami, P. Castorina, F. Lalatta, G. Marra, D. Riva, B. Scelsa, L. Spaccini, G. Uziel, E. D. Giudice, A. M. Laverda, K. Ludwig, A. Permunian, A. Suppiej, S. Signorini, C. Uggetti, R. Battini, M. D. Giacomo, M. R. Cilio, M. L. Di, V. Leuzzi, P. Parisi, M. Pollazzon, M. Silengo, R. D. Vescovi, D. Greco, C. Romano, M. Cazzagon, A. Simonati, A. A. Al Tawari, L. Bastaki, A. Mégarbané, V. S. Avramovska, M. M. de, P. Stromme, R. Koul, A. Rajab, M. Azam, C. Barbot, L. M. Sampol, B. Rodriguez, I. Pascual Castroviejo, S. Teber, B. Anlar, S. Comu, E. Karaca, H. Kayserili, A. Yüksel, M. Akcakus, L. A. Gazali, L. Sztriha, D. Nicholl, C. G. Woods, C. Bennett, J. Hurst, E. Sheridan, A. Barnicoat, R. Hennekam, M. Lees, E. Blair, S. Bernes, H. Sanchez, A. E. Clark, E. DeMarco, C. Donahue, E. Sherr, J. Hahn, T. D. Sanger, T. E. Gallager, W. B. Dobyns, C. Daugherty, K. S. Krishnamoorthy, D. Sarco, C. A. Walsh, T. McKanna, J. Milisa, W. K. Chung, D. C. De, H. Raynes, R. Schubert, A. Seward, D. G. Brooks, A. Goldstein, J. Caldwell, E. Finsecke, B. L. Maria, K. Holden, R. P. Cruse, K. J. Swoboda, D. Viskochil, BRANCATI, Francesco

المساهمون: L., Travaglini, Brancati, Francesco, T., Attie Bitach, S., Audollent, E., Bertini, J., Kaplan, I., Perrault, M., Iannicelli, B., Mancuso, L., Rigoli, J., Rozet, D., Swistun, J., Tolentino, B., Dallapiccola, J. G., Gleeson, E. M., Valente, I. J., Study, A., Zankl, R., Leventer, P., Grattan Smith, A., Janecke, M., D'Hooghe, Y., Sznajer, R. V., Coster, L., Demerleir, K., Dia, C., Moco, A., Moreira, C. A., Kim, G., Maegawa, D., Petkovic, G. M., H., A., Abdel Aleem, M. S., Zaki, I., Marti, S., Quijano Roy, S., Sigaudy, P. d., Lonlay, S., Romano, R., Touraine, M., Koenig, C., Lagier Tourenne, J., Messer, P., Collignon, N., Wolf, H., Philippi, S. K., Tzeli, S., Halldorsson, J., Johannsdottir, P., Ludvigsson, S. R., Phadke, V., Udani, B., Stuart, A., Magee, D., Lev, M., Michelson, B., Ben Zeev, R., Fischetto, F., Benedicenti, F., Stanzial, R., Borgatti, P., Accorsi, S., Battaglia, E., Fazzi, L., Giordano, L., Pinelli, L., Boccone, S., Bigoni, A., Ferlini, M. A., Donati, G., Caridi, M. T., Divizia, F., Faravelli, G., Ghiggeri, A., Pessagno, M., Briguglio, S., Briuglia, C. D., Salpietro, G., Tortorella, A., Adami, P., Castorina, F., Lalatta, G., Marra, D., Riva, B., Scelsa, L., Spaccini, G., Uziel, E. D., Giudice, A. M., Laverda, K., Ludwig, A., Permunian, A., Suppiej, S., Signorini, C., Uggetti, R., Battini, M. D., Giacomo, M. R., Cilio, M. L., Di, V., Leuzzi, P., Parisi

مصطلحات موضوعية: Abnormalitie, Multiple, genetics, Antigen, Neoplasm, genetics/metabolism, Base Sequence, Cilia, genetics/pathology, DNA Mutational Analysis, Female, Fetu, metabolism/pathology, Gene Deletion, Genetic Testing, Humans, Neoplasm Protein, RNA, Messenger, analysis, Syndrome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19764032; volume:149A; firstpage:2173; lastpage:2180; numberofpages:7; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11564/270796Test; http://dx.doi.org/10.1002/ajmg.a.33025Test

الإتاحة: https://doi.org/10.1002/ajmg.a.33025Test
http://hdl.handle.net/11564/270796Test