المؤلفون: A Morgan, S. Lenarduzzi, B. Spedicati, E. Cattaruzzi, F. M. Murru, G. Pelliccione, D. Mazzà, M. Zollino, C. Graziano, U. Ambrosetti, M. Seri, F. Faletra, G. Girotto

المساهمون: A. Morgan, S. Lenarduzzi, B. Spedicati, E. Cattaruzzi, F.M. Murru, G. Pelliccione, D. Mazzà, M. Zollino, C. Graziano, U. Ambrosetti, M. Seri, F. Faletra, G. Girotto

مصطلحات موضوعية: hereditary hearing lo, MLPA, whole exome sequencing, molecular diagnosis, Settore MED/32 - Audiologia

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000593345700001; volume:11; issue:11; numberofpages:16; journal:GENES & DEVELOPMENT; http://hdl.handle.net/2434/822862; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85093943758

الاتاحة: http://hdl.handle.net/2434/822862
https://doi.org/10.3390/genes11111237

المؤلفون: R. K. J. Olsen, E. KoåˆaåTMã­kovã¡, T. A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T. B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rios, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P. F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R. G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T. M. Strom, N. Gregersen, J. A. Mayr, R. Horvath, M. Barile, H. Prokisch

المساهمون: R.K.J. Olsen, E. KoåˆaåTMã­kovã¡, T.A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T.B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rio, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P.F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R.G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T.M. Strom, N. Gregersen, J.A. Mayr, R. Horvath, M. Barile, H. Prokisch

مصطلحات موضوعية: adult, blotting, western, case-control studie, cells, cultured, electron transport, female, fibroblast, flavin-adenine dinucleotide, frameshift mutation, gene expression profiling, human, infant, newborn, liver, male, mitochondrial disease, multiple acyl coenzyme a dehydrogenase deficiency, muscle, skeletal, mutagenesis, site-directed, nucleotidyltransferase, protein binding, rna, messenger, real-time polymerase chain reaction, reverse transcriptase polymerase chain reaction, riboflavin

Relation: info:eu-repo/semantics/altIdentifier/pmid/27259049; info:eu-repo/semantics/altIdentifier/wos/WOS:000377286000008; volume:98; issue:6; firstpage:1130; lastpage:1145; numberofpages:16; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523684; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84971568098

الاتاحة: http://hdl.handle.net/2434/523684
https://doi.org/10.1016/j.ajhg.2016.04.006

المؤلفون: CHIO', Adriano, CALVO, Andrea, MOGLIA, Cristina, A. Canosa, M. Brunetti, M. Barberis, G. Restagno, A. Conte, G. Bisogni, G. Marangi, A. Moncada, S. Lattante, M. Zollino, M. Sabatelli, A. Bagarotti, L. Corrado, G. Mora, E. Bersano, L. Mazzini, S. D'Alfonso, F. PARALS

المساهمون: A. Chiò, A. Calvo, C. Moglia, A. Canosa, M. Brunetti, M. Barberi, G. Restagno, A. Conte, G. Bisogni, G. Marangi, A. Moncada, S. Lattante, M. Zollino, M. Sabatelli, A. Bagarotti, L. Corrado, G. Mora, E. Bersano, L. Mazzini, S. D'Alfonso, F. PARALS

Relation: info:eu-repo/semantics/altIdentifier/pmid/25527265; info:eu-repo/semantics/altIdentifier/wos/WOS:000348702600010; volume:84; issue:3; firstpage:251; lastpage:258; numberofpages:8; journal:NEUROLOGY; info:eu-repo/grantAgreement/EC/FP7/25986; http://hdl.handle.net/2318/1507831; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84925953333; http://dx.doi.org/10.1212/WNL.0000000000001159

الاتاحة: http://hdl.handle.net/2318/1507831
https://doi.org/10.1212/WNL.0000000000001159

المؤلفون: G. Bonanni, V. Trevisan, M. Zollino, M. De Santis, F. Romanzi, A. Lanzone, E. Bevilacqua

المصدر: Ultrasound in Obstetrics & Gynecology. 60:132-133

مصطلحات موضوعية: Reproductive Medicine, Radiological and Ultrasound Technology, Obstetrics and Gynecology, Radiology, Nuclear Medicine and imaging, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0fa7a151e1db05d8f538da5ce4222f31
https://doi.org/10.1002/uog.25374

المؤلفون: Inge B. Mathijssen, Claire G. Salter, J M van Hagen, Tara Montgomery, Manuela Priolo, T. E. Neumann, Charles Shaw-Smith, I. H. Acero, Raoul C.M. Hennekam, L. Pintomalli, Fernando Santos-Simarro, Christine Coubes, Maria Iascone, Leonie A. Menke, Nursel Elcioglu, M. Zollino, Ghayda M. Mirzaa, Shane McKee, Rajesh V. Thakker, S. Piening, I. Dapia, C. Mammì, Arveen Kamath, Jair Tenorio, Emilia K. Bijlsma, Pierre Sarda, W. W. Dunn, Denny Schanze, Paul A. Mulder, Pablo Lapunzina, Martin Zenker, A. van Haeringen, Laura Bernardini, Jan Liebelt, N. Di Donato, Dorothee Neubauer, Jill A. Fahrner, Alison Foster, Sally Ann Lynch, Sue Price, A. M. Landlust, Sally J. Davies, N. G. González, I. Huber, Rita Valdez, I. D. C. van Balkom, Maria Antonietta Pisanti, Saskia M. Maas, Sarah F. Smithson, Pedro Arias, Mohnish Suri, Mabel Segovia, Kreepa Kooblall, Katrina Tatton-Brown, Trevor Cole, A. S. Plomp, Ann Sophie Kaiser, Fowzan S. Alkuraya

المساهمون: Pediatric surgery, Human genetics, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., Gonzalez, N. G., Huber, I., Iascone, M., Kaiser, A. -S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammi, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C., Graduate School, ANS - Cellular & Molecular Mechanisms, General Paediatrics, ARD - Amsterdam Reproduction and Development, Human Genetics

المصدر: J Intellect Disabil Res
Mulder, P A, van Balkom, I D C, Landlust, A M, Priolo, M, Menke, L A, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Kooblall, K, Lapunzina, P, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Schanze, D, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Tatton-Brown, K, Tenorio, J, Thakker, R V, Valdez, R M, van Haeringen, A, van Hagen, J M, Zenker, M, Zollino, M, Dunn, W W, Piening, S & Hennekam, R C 2020, ' Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes ', Journal of Intellectual Disability Research, vol. 64, no. 12, pp. 956-969 . https://doi.org/10.1111/jir.12787
Journal of Intellectual Disability Research, 64(12), 956-969. Wiley-Blackwell
Journal of Intellectual Disability Research, 64(12), 956-969. WILEY
Journal of intellectual disability research, 64(12), 956-969. Wiley-Blackwell

مصطلحات موضوعية: cognition, Male, 030506 rehabilitation, Marshall–Smith syndrome, medicine.medical_treatment, CHILDREN, Comorbidity, Settore MED/03 - GENETICA MEDICA, Craniofacial Abnormalities, Quality of life, Septo-Optic Dysplasia, Intellectual disability, Adaptation, Psychological, sensory processing, Child, Netherlands, biology, Mental Disorders, 05 social sciences, Rehabilitation, Cognition, SOTOS-LIKE, Syndrome, NFIX, Psychiatry and Mental health, Phenotype, Neurology, adaptive behaviour, Child, Preschool, NFIX variants, Female, 0305 other medical science, Psychology, 050104 developmental & child psychology, Clinical psychology, Adult, Sensory processing, Adolescent, Challenging behaviour, NFIXvariants, Context (language use), AUTISTIC DISORDER, Speech Disorders, Article, 03 medical and health sciences, Young Adult, Arts and Humanities (miscellaneous), Intellectual Disability, medicine, Humans, 0501 psychology and cognitive sciences, Abnormalities, Multiple, Malan syndrome, Bone Diseases, Developmental, ADULTS, medicine.disease, Marshall-Smith syndrome, Cross-Sectional Studies, biology.protein, PATTERNS, Neurology (clinical), Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5de6be3c9250c5a8b430e944ce44d898
https://pubmed.ncbi.nlm.nih.gov/33034087

المؤلفون: L. GARAVELLI, P. CERRUTI MAINARDI, P. FAGANDINI, E. GUARESCHI, S. ERRICO, G. PASTORE, M. ZOLLINO, F. GURRIERI, P. BIANCHI, C. CASTRONOVO, E. FAVARON, R. VIRDIS, S. AMARRI, C. ZWEIER, A. RAUCH, E. EVANS, S. EINFELD, D. MOWAT, M. WILSON, G. NERI, BERNASCONI, Sergio

المساهمون: L., Garavelli, P., CERRUTI MAINARDI, P., Fagandini, E., Guareschi, S., Errico, G., Pastore, M., Zollino, F., Gurrieri, P., Bianchi, C., Castronovo, E., Favaron, R., Virdi, S., Amarri, C., Zweier, A., Rauch, E., Evan, S., Einfeld, D., Mowat, M., Wilson, Bernasconi, Sergio, G., Neri

Relation: IX Congresso Nazionale SIGU; firstpage:37; lastpage:37; http://hdl.handle.net/11381/1509468

الاتاحة: http://hdl.handle.net/11381/1509468

المؤلفون: L. GARAVELLI, P. CERRUTI MAINARDI, S. PEDORI, G. PASTORE, M. GODI, S. PROVERA, A. RAUCH, C. ZWEIER, M. ZOLLINO, G. BANCHINI, G. NERI, VIRDIS, Raffaele, BERNASCONI, Sergio

المساهمون: L., Garavelli, P., CERRUTI MAINARDI, Virdis, Raffaele, S., Pedori, G., Pastore, M., Godi, S., Provera, A., Rauch, C., Zweier, M., Zollino, G., Banchini, Bernasconi, Sergio, G., Neri

Relation: Società Italiana di Genetica Umana; firstpage:111; http://hdl.handle.net/11381/1440366

الاتاحة: http://hdl.handle.net/11381/1440366

المؤلفون: A. Chio, A. Calvo, C. Caponnetto, F. L. Conforti, M. Corbo, J. Mandrioli, G. Mora, M. Sabatelli, C. Ajmone, E. Mastro, D. Pain, P. Mandich, S. Penco, G. Restagno, M. Zollino, A. Surbone, M. R. Monsurro, G. Tedeschi, A. Conte, M. Luigetti, S. Lattante, G. Marangi, P. Volanti, K. Marinou, L. Papetti, C. Lunetta, G. L. Pintor, F. Salvi, I. Bartolomei, A. Quattrone, A. Gambardella, G. Logroscino, I. Simone, F. Pisano, R. Spataro, V. La Bella, T. Colletti, G. Mancardi, P. Origone, P. Sola, G. Borghero, F. Marrosu, M. G. Marrosu, M. R. Murru, G. Floris, A. Cannas, V. Piras, E. Costantino, C. Pani, M. A. Sotgiu, M. Pugliatti, L. D. Parish, P. Cossu, A. Ticca, C. Rodolico, S. Portaro, C. Moglia, I. Ossola, M. Brunetti, M. Barberis, A. Canosa, S. Cammarosano, D. Bertuzzo, G. Fuda, A. Ilardi, U. Manera, I. Pastore, W. Sproviero, F. Logullo, R. Tanel, BATTISTINI, STEFANIA, GIANNINI, FABIO, RICCI, CLAUDIA

المساهمون: A., Chio, Battistini, Stefania, A., Calvo, C., Caponnetto, F. L., Conforti, M., Corbo, Giannini, Fabio, J., Mandrioli, G., Mora, M., Sabatelli, C., Ajmone, E., Mastro, D., Pain, P., Mandich, S., Penco, G., Restagno, M., Zollino, A., Surbone, M. R., Monsurro, G., Tedeschi, A., Conte, M., Luigetti, S., Lattante, G., Marangi, P., Volanti, K., Marinou, L., Papetti, C., Lunetta, G. L., Pintor, F., Salvi, I., Bartolomei, A., Quattrone, A., Gambardella, G., Logroscino, I., Simone, F., Pisano, R., Spataro, V., La Bella, T., Colletti, G., Mancardi, P., Origone, P., Sola, G., Borghero, F., Marrosu, M. G., Marrosu, M. R., Murru, G., Flori, A., Canna, V., Pira, E., Costantino, C., Pani, M. A., Sotgiu, M., Pugliatti, L. D., Parish, P., Cossu, A., Ticca, C., Rodolico, S., Portaro, Ricci, Claudia, C., Moglia, I., Ossola, M., Brunetti, M., Barberi, A., Canosa, S., Cammarosano, D., Bertuzzo, G., Fuda, A., Ilardi, U., Manera, I., Pastore, W., Sproviero, F., Logullo, R., Tanel

Relation: info:eu-repo/semantics/altIdentifier/pmid/23833266; info:eu-repo/semantics/altIdentifier/wos/WOS:000334617800006; volume:85; issue:5; firstpage:478; lastpage:485; numberofpages:8; journal:JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY; http://hdl.handle.net/11365/45454; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84898847400

الاتاحة: http://hdl.handle.net/11365/45454
https://doi.org/10.1136/jnnp-2013-305546

المؤلفون: CHIO', Adriano, CALVO, Andrea, MASTRO, Enza, MOGLIA, CRISTINA, BRUNETTI, Maura, CAMMAROSANO, Stefania, FUDA, Giuseppe, ILARDI, ANTONIO, S. Battistini, C. Caponnetto, F. L. Conforti, M. Corbo, F. Giannini, J. Mandrioli, G. Mora, M. Sabatelli, C. Ajmone, D. Pain, P. Mandich, S. Penco, G. Restagno, M. Zollino, A. Surbone, M. R. Monsurro, G. Tedeschi, A. Conte, M. Luigetti, S. Lattante, G. Marangi, P. Volanti, K. Marinou, L. Papetti, C. Lunetta, G. L. Pintor, F. Salvi, I. Bartolomei, A. Quattrone, A. Gambardella, G. Logroscino, I. Simone, F. Pisano, R. Spataro, V. La Bella, T. Colletti, G. Mancardi, P. Origone, P. Sola, G. Borghero, F. Marrosu, M. G. Marrosu, M. R. Murru, G. Floris, A. Cannas, V. Piras, E. Costantino, C. Pani, M. A. Sotgiu, M. Pugliatti, L. D. Parish, P. Cossu, A. Ticca, C. Rodolico, S. Portaro, C. Ricci, I. Ossola, M. Barberis, A. Canosa, D. Bertuzzo, U. Manera, I. Pastore, W. Sproviero, F. Logullo, R. Tanel

المساهمون: A. Chio, S. Battistini, A. Calvo, C. Caponnetto, F. L. Conforti, M. Corbo, F. Giannini, J. Mandrioli, G. Mora, M. Sabatelli, C. Ajmone, E. Mastro, D. Pain, P. Mandich, S. Penco, G. Restagno, M. Zollino, A. Surbone, M. R. Monsurro, G. Tedeschi, A. Conte, M. Luigetti, S. Lattante, G. Marangi, P. Volanti, K. Marinou, L. Papetti, C. Lunetta, G. L. Pintor, F. Salvi, I. Bartolomei, A. Quattrone, A. Gambardella, G. Logroscino, I. Simone, F. Pisano, R. Spataro, V. La Bella, T. Colletti, G. Mancardi, P. Origone, P. Sola, G. Borghero, F. Marrosu, M. G. Marrosu, M. R. Murru, G. Flori, A. Canna, V. Pira, E. Costantino, C. Pani, M. A. Sotgiu, M. Pugliatti, L. D. Parish, P. Cossu, A. Ticca, C. Rodolico, S. Portaro, C. Ricci, C. Moglia, I. Ossola, M. Brunetti, M. Barberi, A. Canosa, S. Cammarosano, D. Bertuzzo, G. Fuda, A. Ilardi, U. Manera, I. Pastore, W. Sproviero, F. Logullo, R. Tanel

مصطلحات موضوعية: stat, psy

Relation: http://hdl.handle.net/2318/148606

الاتاحة: http://hdl.handle.net/2318/148606

المؤلفون: L. Giotta, M.R. Guascito, M. Zollino, D. Chirizzi, L. Valli, D. Cesari, A. Dinoi, D. Contini

المساهمون: Giotta, Livia, Guascito, Maria Rachele, Zollino, M., Chirizzi, Daniela, Valli, Ludovico, Cesari, D., Dinoi, Adelaide, Contini, D.

المصدر: Workshop TECH-AIR 2016-Application of Non-Conventional Analytical TECHniques to Atmospheric PartIculate MatteR, pp. 28–29, Lecce, 8/11/2016
info:cnr-pdr/source/autori:L. Giotta, M.R. Guascito, M. Zollino, D. Chirizzi, L. Valli, D. Cesari, A. Dinoi, D. Contini/congresso_nome:Workshop TECH-AIR 2016-Application of Non-Conventional Analytical TECHniques to Atmospheric PartIculate MatteR/congresso_luogo:Lecce/congresso_data:8%2F11%2F2016/anno:2016/pagina_da:28/pagina_a:29/intervallo_pagine:28–29

مصطلحات موضوعية: particulate matter, oxidative potential, ATR, FTIR

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c97ef88fa69665ec265ac2791be1ab49
https://hdl.handle.net/11587/407647

المؤلفون: A. Chiò, G. Borghero, G. Restagno, G. Mora, C. Drepper, B. J. Traynor, M. Sendtner, M. Brunetti, I. Ossola, A. Calvo, M. Pugliatti, A. Sotgiu, M. R. Murru, M. G. Marrosu, F. Marrosu, K. Marinou, J. Mandrioli, P. Sola, C. Caponnetto, G. Mancardi, P. Mandich, V. La Bella, R. Spataro, A. Conte, M. R. Monsurrò, G. Tedeschi, F. Pisano, I. Bartolomei, F. Salvi, G. Lauria Pinter, I. Simone, G. Logroscino, A. Gambardella, A. Quattrone, C. Lunetta, P. Volanti, M. Zollino, S. Penco, BATTISTINI, STEFANIA, A. E. Renton, E. Majounie, Y. Abramzon, F. L. Conforti, GIANNINI, FABIO, M. Corbo, M. Sabatelli

المساهمون: A., Chiò, G., Borghero, G., Restagno, G., Mora, C., Drepper, B. J., Traynor, M., Sendtner, M., Brunetti, I., Ossola, A., Calvo, M., Pugliatti, A., Sotgiu, M. R., Murru, M. G., Marrosu, F., Marrosu, K., Marinou, J., Mandrioli, P., Sola, C., Caponnetto, G., Mancardi, P., Mandich, V., La Bella, R., Spataro, A., Conte, M. R., Monsurrò, G., Tedeschi, F., Pisano, I., Bartolomei, F., Salvi, G., Lauria Pinter, I., Simone, G., Logroscino, A., Gambardella, A., Quattrone, C., Lunetta, P., Volanti, M., Zollino, S., Penco, Battistini, Stefania, A. E., Renton, E., Majounie, Y., Abramzon, F. L., Conforti, Giannini, Fabio, M., Corbo, M., Sabatelli

مصطلحات موضوعية: amyotrophic lateral sclerosi, familial ALS, C9ORF72 gene, phenotype-genotype correlation

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/22366794; info:eu-repo/semantics/altIdentifier/wos/WOS:000300738300011; volume:135; issue:3; firstpage:784; lastpage:793; numberofpages:10; journal:BRAIN; http://hdl.handle.net/11365/19861; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84857522741; https://academic.oup.com/brain/article/135/3/784/1746564

الاتاحة: http://hdl.handle.net/11365/19861
https://doi.org/10.1093/brain/awr366
https://academic.oup.com/brain/article/135/3/784/1746564

المؤلفون: Christiane Zweier, M Zollino, Livia Garavelli, Pastore G, P. Cerruti-Mainardi, M. Godi, Nicola Longo, S. Bernasconi, G. Neri, David Mowat, Raffaele Virdis, S. Pedori, Giacomo Banchini, Anita Rauch, S. Provera

المصدر: Hormone Research in Paediatrics. 63:187-192

مصطلحات موضوعية: Genetics, Zinc finger, Microcephaly, medicine.medical_specialty, Genitourinary system, Endocrinology, Diabetes and Metabolism, Mowat–Wilson syndrome, Zinc Finger E-box Binding Homeobox 2, Biology, medicine.disease, Dermatology, Endocrinology, medicine.anatomical_structure, Urethra, Hypospadias, Pediatrics, Perinatology and Child Health, medicine, Penis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::61856ab6f7d367f3b99b015283f552a8
https://doi.org/10.1159/000085894

المؤلفون: Ada Donadio, Christiane Zweier, Giacomo Banchini, Gianna Bertani, Livia Garavelli, G. Neri, Giuseppe Albertini, C. Del Rossi, E. Della Giustina, Anita Rauch, M Zollino, C. Zanacca

المصدر: American Journal of Medical Genetics. :385-388

مصطلحات موضوعية: medicine.medical_specialty, Pathology, Mowat–Wilson syndrome, Disease, Intellectual Disability, Internal medicine, Intellectual disability, medicine, Humans, Abnormalities, Multiple, Hirschsprung Disease, Gene, Genetics (clinical), Colonic disease, Zinc Finger E-box Binding Homeobox 2, Dysmorphic facies, Homeodomain Proteins, business.industry, DNA, Syndrome, medicine.disease, Repressor Proteins, Developmental disorder, Endocrinology, Face, Mutation, Mutation (genetic algorithm), business, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28bf7b97c5786233b2c56c00343068a9
https://doi.org/10.1002/ajmg.a.10855

المؤلفون: M. D. Gregori, P. Magini, T. Pramparo, S. Gimelli, J. Messa, F. Novara, VETRO, ANNALISA, E. Rossi, P. Maraschio, M. C. Bonaglia, C. Anichini, G. B. Ferrero, M. Silengo, E. Fazzi, A. Zatterale, R. Fischetto, PREVIDERE', CARLO, S. Belli, A. Turci, G. Calabrese, F. Bernardi, E. Meneghelli, M. Riegel, M. Rocchi, S. Guerneri, F. Lalatta, L. Zelante, C. Romano, M. Fichera, T. Mattina, G. Arrigo, M. Zollino, S. Giglio, F. Lonardo, A. Bonfante, A. Ferlini, F. Cifuentes, H. V. Esch, L. Backx, A. Schinzel, J. R. Vermeesch, O. Zuffardi, CICCONE, ROBERTO

المساهمون: M. D., Gregori, Ciccone, Roberto, P., Magini, T., Pramparo, S., Gimelli, J., Messa, F., Novara, Vetro, Annalisa, E., Rossi, P., Maraschio, M. C., Bonaglia, C., Anichini, G. B., Ferrero, M., Silengo, E., Fazzi, A., Zatterale, R., Fischetto, Previdere', Carlo, S., Belli, A., Turci, G., Calabrese, F., Bernardi, E., Meneghelli, M., Riegel, M., Rocchi, S., Guerneri, F., Lalatta, L., Zelante, C., Romano, M., Fichera, T., Mattina, G., Arrigo, M., Zollino, S., Giglio, F., Lonardo, A., Bonfante, A., Ferlini, F., Cifuente, H. V., Esch, L., Backx, A., Schinzel, J. R., Vermeesch, O., Zuffardi

مصطلحات موضوعية: Abnormalitie, Multiple, genetics, Abortion, Habitual, Adult, Child, Preschool, Chromosome Breakage, Chromosome Deletion, Chromosome Disorder, genetics/pathology, Chromosome Painting, Female, Fetal Disease, Humans, In Situ Hybridization, Fluorescence, Infant, Newborn, Intellectual Disability, Male, Nucleic Acid Hybridization, Oogenesis, Phenotype, Prenatal Diagnosis, Spermatogenesis, Translocation, Genetic

Relation: info:eu-repo/semantics/altIdentifier/pmid/17766364; volume:44; firstpage:750; lastpage:762; numberofpages:12; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11571/497477; http://dx.doi.org/10.1136/jmg.2007.052787

الاتاحة: http://hdl.handle.net/11571/497477
https://doi.org/10.1136/jmg.2007.052787

المؤلفون: P. CERRUTI MAINARDI, L. GARAVELLI, G. PASTORE, R. VIRDIS, S. PEDORI, M. GODI, S. PROVERA, A. RAUCH, C. ZWEIER, C. CASTRONOVO, M. ZOLLINO, G. BANCHINI, G. NERI, BERNASCONI, Sergio

المساهمون: P., CERRUTI MAINARDI, L., Garavelli, G., Pastore, R., Virdi, S., Pedori, M., Godi, S., Provera, A., Rauch, C., Zweier, C., Castronovo, M., Zollino, G., Banchini, Bernasconi, Sergio, G., Neri

Relation: volume:31; firstpage:116; lastpage:125; journal:JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM; http://hdl.handle.net/11381/1443990

الاتاحة: http://hdl.handle.net/11381/1443990

المؤلفون: L. GARAVELLI, P. CERRUTI MAINARDI, S. PEDORI, G. PASTORE, M. GODI, S. PROVERA, A. RAUCH, C. ZWEIER, M. ZOLLINO, G. BANCHINI, VIRDIS, Raffaele, BERNASCONI, Sergio

المساهمون: L., Garavelli, P., CERRUTI MAINARDI, Virdis, Raffaele, S., Pedori, G., Pastore, M., Godi, S., Provera, A., Rauch, C., Zweier, M., Zollino, G., Banchini, Bernasconi, Sergio

Relation: volume:470; firstpage:1; lastpage:6; journal:HORMONE RESEARCH; http://hdl.handle.net/11381/1443988

الاتاحة: http://hdl.handle.net/11381/1443988

المؤلفون: Y. Yoshii, S. Hadano, A. Otomo, K. Suzuki, K. Ikeda, J. -E. Ikeda, Y. Iwasaki, M. de Carvalho, M. Sabatelli, M. Luigetti, A. Conte, M. Zollino

المصدر: Neurology. 73:648-650

مصطلحات موضوعية: Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9b51babe5552020555f219544eccae4f
https://doi.org/10.1212/wnl.0b013e3181b28674

المؤلفون: A. CHIÒ, G. MORA, M. SABATELLI, S. BATTISTINI, M. CORBO, C. CAPONNETTO, P. MANDICH, S. PENCO, L. CONFORTI, M. ZOLLINO, G. RESTAGNO, A. SURBONE, ITALSGEN CONSORTIUM

المصدر: Neurological sciences (Testo stamp.) (2013).
info:cnr-pdr/source/autori:A. CHIÒ, G. MORA, M. SABATELLI, S. BATTISTINI, M. CORBO, C. CAPONNETTO, P. MANDICH, S. PENCO, L. CONFORTI, M. ZOLLINO, G. RESTAGNO, A. SURBONE, ITALSGEN CONSORTIUM/titolo:GENETIC COUNSELLING IN ALS: FACTS, UNCERTAINTIES AND RECOMMENDATIONS/doi:/rivista:Neurological sciences (Testo stamp.)/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volume

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::46bbe4d2339f7f1d4f879b4145ea9e36
https://publications.cnr.it/doc/307499

المؤلفون: M, Sabatelli, A, Conte, M, Zollino

المصدر: Clinical genetics. 83(5)

مصطلحات موضوعية: Genetic Heterogeneity, Amyotrophic Lateral Sclerosis, Mutation, Humans, Genetic Predisposition to Disease, Penetrance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b5939bba6a3ffef15f603390a6255247
https://pubmed.ncbi.nlm.nih.gov/23379621

المؤلفون: B. W. M, D. A. Koolen, R. Borgatti, A. Magee, S. Garcia Minaur, L. Rooms, W. Reardon, M. Zollino, M. C. Bonaglia, M. D. Gregori, F. Novara, R. Grasso, H. A. van, A. M. Aalbers, R. Guerrini, E. Fazzi, W. M. Nillesen, S. McCullough, S. G. Kant, C. L. Marcelis, R. Pfundt, N. d. Leeuw, D. Smeets, E. A. Sistermans, J. M. Wit, B. C. Hamel, H. G. Brunner, F. Kooy, O. Zuffardi, B. B. A., CICCONE, ROBERTO

المساهمون: B. W. M., Koolen, D. A., Borgatti, R., Magee, A., Garcia Minaur, S., Rooms, L., Reardon, W., Zollino, M., Bonaglia, M. C., Gregori, M. D., Novara, F., Grasso, R., Ciccone, Roberto, Van, H. A., Aalbers, A. M., Guerrini, R., Fazzi, E., Nillesen, W. M., Mccullough, S., Kant, S. G., Marcelis, C. L., Pfundt, R., Leeuw, N. d., Smeets, D., Sistermans, E. A., Wit, J. M., Hamel, B. C., Brunner, H. G., Kooy, F., Zuffardi, O., B. B. A.

مصطلحات موضوعية: Adolescent, Adult, Agenesis of Corpus Callosum, Child, Preschool, Chromosome Deletion, Chromosome, Human, Pair 1, genetics, Family, Female, Humans, Infant, Male, Syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/18178631; volume:45; firstpage:346; lastpage:354; numberofpages:8; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11571/497473; http://dx.doi.org/10.1136/jmg.2007.055830

الاتاحة: http://hdl.handle.net/11571/497473
https://doi.org/10.1136/jmg.2007.055830