المؤلفون: I. Maini, I. Ivanovski, O. Djuric, S. G. Caraffi, E. Errichiello, M. Marinelli, F. Franchi, V. Bizzarri, S. Rosato, M. Pollazzon, C. Gelmini, M. Malacarne, C. Fusco, G. Gargano, S. Bernasconi, O. Zuffardi, L. Garavelli

المصدر: Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-13 (2018)

مصطلحات موضوعية: Array-CGH, Neurodevelopmental disorders, Multiple congenital anomalies, Dysmorphisms, Interpretation, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13052-018-0467-zTest; https://doaj.org/toc/1824-7288Test

الوصول الحر: https://doaj.org/article/53e4827f89b24dbf9b4d2f01bd0ba74dTest

المؤلفون: I. Ferrari, F. Guizzardi, L. Persani, R. Rossetti, J. Bouilly, I. Beau, A. Ferlin, M. Pollazzon, M. Salerno, N. Binart

المساهمون: I. Ferrari, J. Bouilly, I. Beau, F. Guizzardi, A. Ferlin, M. Pollazzon, M. Salerno, N. Binart, L. Persani, R. Rossetti

مصطلحات موضوعية: Molecular Biology, Genetic, Genetics (clinical), Settore MED/13 - Endocrinologia, Settore BIO/13 - Biologia Applicata

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27798098; info:eu-repo/semantics/altIdentifier/wos/WOS:000397063300014; volume:25; issue:23; firstpage:5223; lastpage:5233; numberofpages:11; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/2434/501853Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85010735297; http://hmg.oxfordjournals.orgTest/

الإتاحة: https://doi.org/10.1093/hmg/ddw342Test
http://hdl.handle.net/2434/501853Test
http://hmg.oxfordjournals.orgTest/

المؤلفون: I. Maini, I. Ivanovski, O. Djuric, S. Caraffi, E. Errichiello, M. Marinelli, F. Franchi, V. Bizzarri, S. Rosato, M. Pollazzon, C. Gelmini, M. Malacarne, C. Fusco, G. Gargano, S. Bernasconi, O. Zuffardi, L. Garavelli

مصطلحات موضوعية: stomatognathic diseases, mental disorders, neoplasms, psychological phenomena and processes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2c04bf4e1bc75a6f9fce5b5148d44b4Test

المؤلفون: I. Maini, I. Ivanovski, O. Djuric, S. Caraffi, E. Errichiello, M. Marinelli, F. Franchi, V. Bizzarri, S. Rosato, M. Pollazzon, C. Gelmini, M. Malacarne, C. Fusco, G. Gargano, S. Bernasconi, O. Zuffardi, L. Garavelli

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, mental disorders, cardiovascular diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2c4777ca6b418b4256620acac6865f3Test

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: I. Maini, I. Ivanovski, O. Djuric, S. Caraffi, E. Errichiello, M. Marinelli, F. Franchi, V. Bizzarri, S. Rosato, M. Pollazzon, C. Gelmini, M. Malacarne, C. Fusco, G. Gargano, S. Bernasconi, O. Zuffardi, L. Garavelli

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, mental disorders, cardiovascular system, cardiovascular diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02342048d9093845c6ca6628e2380ec0Test

المؤلفون: I. Maini, I. Ivanovski, O. Djuric, S. Caraffi, E. Errichiello, M. Marinelli, F. Franchi, V. Bizzarri, S. Rosato, M. Pollazzon, C. Gelmini, M. Malacarne, C. Fusco, G. Gargano, S. Bernasconi, O. Zuffardi, L. Garavelli

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, cardiovascular system, cardiovascular diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a3d766b15c80db90e50e9ff3581313dTest

المؤلفون: I. Maini, I. Ivanovski, O. Djuric, S. Caraffi, E. Errichiello, M. Marinelli, F. Franchi, V. Bizzarri, S. Rosato, M. Pollazzon, C. Gelmini, M. Malacarne, C. Fusco, G. Gargano, S. Bernasconi, O. Zuffardi, L. Garavelli

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, cardiovascular system, cardiovascular diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95326a0a21bb6e485d1d4a7908b6f4d4Test

المؤلفون: M. Iannicelli, F. Brancati, S. Mougou Zerelli, A. Mazzotta, S. Thomas, N. Elkhartoufi, L. Travaglini, C. Gomes, G. L. Ardissino, E. Bertini, E. Boltshauser, P. Castorina, S. D'Arrigo, R. Fischetto, B. Leroy, P. Loget, M. Bonniere, L. Starck, J. Tantau, B. Gentilin, S. Majore, D. Swistun, E. Flori, F. Lalatta, C. Pantaleoni, J. Penzien, GRAMMATICO, Paola, L. Ali Pacha, M. Tazir, A. Zankl, R. Leventer, P. Grattan Smith, A. Janecke, M. D'Hooghe, Y. Sznajer, R. Van Coster, L. Demerleir, K. Dias, C. Moco, A. Moreira, C. Ae Kim, G. Maegawa, D. Loncarevic, V. Mejaski Bosnjak, D. Petkovic, G. M. Abdel Salam, A. Abdel Aleem, M. S. Zaki, I. Marti, S. Quijano Roy, S. Sigaudy, P. De Lonlay, S. Romano, A. Verloes, R. Touraine, M. Koenig, C. Lagier Tourenne, J. Messer, P. Collignon, N. Wolf, H. Philippi, J. Lemke, C. Dacou Voutetakis, S. Kitsiou Tzeli, R. Pons, L. Sztriha, S. Halldorsson, J. Johannsdottir, P. Ludvigsson, S. R. Phadke, V. Udani, B. Stuart, A. Magee, D. Lev, M. Michelson, B. Ben Zeev, M. Di Giacomo, M. Gentile, G. Guanti, O. D'Addato, F. Papadia, M. Spano, F. Bernardi, M. Seri, F. Benedicenti, F. Stanzial, R. Borgatti, P. Accorsi, S. Battaglia, E. Fazzi, L. Giordano, C. Izzi, L. Pinelli, L. Boccone, P. Guanciali, R. Romoli, S. Bigoni, A. Ferlini, E. Andreucci, M. A. Donati, M. Genuardi, G. Caridi, M. T. Divizia, F. Faravelli, G. Ghiggeri, M. Amorini, M. Briguglio, S. Briuglia, L. Rigoli, C. Salpietro, G. Tortorella, A. Adami, G. Marra, D. Riva, B. Scelsa, L. Spaccini, G. Uziel, G. Coppola, E. Del Giudice, G. Vitiello, A. M. Laverda, K. Ludwig, A. Permunian, A. Suppiej, C. Macaluso, S. Signorini, C. Uggetti, R. Battini, M. Priolo, M. R. Cilio, A. D'Amico, M. L. Di Sabato, F. Emma, LEUZZI, Vincenzo, PARISI, Pasquale, G. Stringini, G. Zanni, M. Pollazzon, A. Renieri, M. Vascotto, M. Silengo, R. De Vescovi, D. Greco, C. Romano, M. Cazzagon, A. Simonati, A. A. Al Tawari, L. Bastaki, A. Megarbane, A. Matuleviciene, V. Sabolic Avramovska, E. Said, M. M. De Jong, T. Prescott, P. Stromme, C. Von Der Lippe, R. Koul, A. Rajab, M. Azam, C. Barbot, B. Jocic Jakubi, B. Gener Querol, L. Martorell Sampol, B. Rodriguez, I. Pascual Castroviejo, S. Strozzi, J. Fluss, S. Teber, M. Topcu, B. Anlar, S. Comu, E. Karaca, H. Kayserili, A. Yuksel, M. Akgul, M. Akcakus, L. Al Gazali, D. Nicholl, C. G. Woods, C. Bennett, J. Hurst, E. Sheridan, A. Barnicoat, L. Carr, R. Hennekam, M. Lees, F. Mckay, L. Yates, E. Blair, S. Bernes, H. Sanchez, A. E. Clark, Marco E. De, 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. Mc Kanna, J. Milisa, W. K. Cjung, D. C. De Vivo, 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, B. Dallapiccola, J. G. Gleeson, T. Attie Bitach, E. M. Valente

المساهمون: Iannicelli, M., Brancati, F., Mougou Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonniere, M., Starck, L., Tantau, J., Gentilin, B., Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, Paola, 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, G. M., Abdel Aleem, A., Zaki, M. S., 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, S. R., 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, M. A.

مصطلحات موضوعية: congenital hepatic fibrosi, coach syndrome, mks3, meckel syndrome, joubert syndrome, tmem67

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20232449; info:eu-repo/semantics/altIdentifier/wos/WOS:000279982000001; volume:31; issue:5; firstpage:E1319; lastpage:E1331; numberofpages:13; journal:HUMAN MUTATION; http://hdl.handle.net/11573/227776Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77951821478; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000279982000001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-77951821478&partnerID=65&md5=f5fcba4057c498376f525fc57a021f9cTest

الإتاحة: https://doi.org/10.1002/humu.21239Test
http://hdl.handle.net/11573/227776Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000279982000001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-77951821478&partnerID=65&md5=f5fcba4057c498376f525fc57a021f9cTest

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