المؤلفون: Graziani, Ludovico, Carriero, Miriam Lucia, Pozzi, Flavio, Minotti, Chiara, Andreadi, Aikaterini, Bellia, Alfonso, Ruta, Rosario, Bengala, Mario, Novelli, Antonio, Lauro, Davide, Novelli, Giuseppe

المصدر: Molecular Syndromology ; page 1-8 ; ISSN 1661-8769 1661-8777

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1159/000536574Test

المؤلفون: Nardone Anna, Russo Silvia, Bengala Mario, Gambardella Stefano, D'Apice Maria, Lucidi Vincenzina, Sangiuolo Federica, Novelli Giuseppe

المصدر: BMC Medical Genetics, Vol 5, Iss 1, p 8 (2004)

مصطلحات موضوعية: Cystic fibrosis, CFTR mutation screening, DHPLC, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.biomedcentral.com/1471-2350/5/8Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/0fb26338a14448cda963101e178b319eTest

المؤلفون: Bonetti, Gabriele, Cozza, William, Bernini, Andrea, Kaftalli, Jurgen, Mareso, Chiara, Cristofoli, Francesca, Medori, Maria Chiara, Colombo, Leonardo, Martella, Salvatore, Staurenghi, Giovanni, Salvetti, Anna Paola, Falsini, Benedetto, Placidi, Giorgio, Attanasio, Marcella, Pertile, Grazia, Bengala, Mario, Bosello, Francesca, Petracca, Antonio, D'Esposito, Fabiana, Toschi, Benedetta, Lanzetta, Paolo, Ricci, Federico, Viola, Francesco, Marceddu, Giuseppe, Bertelli, Matteo

المساهمون: Bonetti, Gabriele, Cozza, William, Bernini, Andrea, Kaftalli, Jurgen, Mareso, Chiara, Cristofoli, Francesca, Medori, Maria Chiara, Colombo, Leonardo, Martella, Salvatore, Staurenghi, Giovanni, Salvetti, Anna Paola, Falsini, Benedetto, Placidi, Giorgio, Attanasio, Marcella, Pertile, Grazia, Bengala, Mario, Bosello, Francesca, Petracca, Antonio, D'Esposito, Fabiana, Toschi, Benedetta, Lanzetta, Paolo, Ricci, Federico, Viola, Francesco, Marceddu, Giuseppe, Bertelli, Matteo

مصطلحات موضوعية: PacBio, RPGR, TTLL5, long-read sequencing, molecular docking, molecular dynamics

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38069202; info:eu-repo/semantics/altIdentifier/wos/WOS:001117808400001; volume:24; issue:23; firstpage:1; lastpage:12; numberofpages:12; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11562/1115473Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85179366227; https://doi.org/10.3390/ijms242316881Test

الإتاحة: https://doi.org/10.3390/ijms242316881Test
https://hdl.handle.net/11562/1115473Test

المؤلفون: Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shadryar, Ali Faqeih, Eissa, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad Yahya Vahidi, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca O., Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, Francois, Dutra-Clarke, Marina, Horvarth, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, A.T., Herenger, Yvan, Dehghanian, M., Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya Ebrahimi, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andrea, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Muller, Amelie Johanna, Digilio, Maria Cristina, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, Mclean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry, Maroofian, Reza

وصف الملف: text

العلاقة: https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docxTest; https://eprints.soton.ac.uk/472172/2/PIIS1098360022009546.pdfTest; Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shadryar, Ali Faqeih, Eissa, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad Yahya Vahidi, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca O., Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, Francois, Dutra-Clarke, Marina, Horvarth, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, A.T., Herenger, Yvan, Dehghanian, M., Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya Ebrahimi, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andrea, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Muller, Amelie Johanna, Digilio, Maria Cristina, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, Mclean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry and Maroofian, Reza (2023) Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genetics in Medicine, 25 (1), 135-142. (doi:10.1016/j.gim.2022.09.016 ).

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.016Test
https://eprints.soton.ac.uk/472172Test/
https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docxTest
https://eprints.soton.ac.uk/472172/2/PIIS1098360022009546.pdfTest

المؤلفون: Meucci, Rosaria, Bengala, Mario, Manenti, Guglielmo, Montesanto, Francesca, Palombi, Chiara, Rufi, Flavia, Goffredo, Carolina, Lombardo, Eleonora, Serio, Maria Lina, Floris, Roberto

المساهمون: Meucci, R, Bengala, M, Manenti, G, Montesanto, F, Palombi, C, Rufi, F, Goffredo, C, Lombardo, E, Serio, Ml, Floris, R

مصطلحات موضوعية: disorder of sex development, intersex disorder, magnetic resonance imaging, true hermaphroditism, Settore MED/36

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36749813; info:eu-repo/semantics/altIdentifier/wos/WOS:001051620300028; volume:27; issue:2; firstpage:332; lastpage:336; numberofpages:5; journal:JBRA; https://hdl.handle.net/2108/343188Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85161497197

الإتاحة: https://doi.org/10.5935/1518-0557.20220072Test
https://hdl.handle.net/2108/343188Test

المؤلفون: Sgrulletti, Mayla, Cifaldi, Cristina, Di Cesare, Silvia, Kroegler, Barbara, Del Duca, Elisabetta, Ferradini, Valentina, Graziani, Simona, Bengala, Mario, Di Matteo, Gigliola, Moschese, Viviana

المصدر: Frontiers in Pediatrics ; volume 10 ; ISSN 2296-2360

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.3389/fped.2022.1055091Test

المؤلفون: Graziani, Ludovico, Minotti, Chiara, Carriero, Miriam Lucia, Bengala, Mario, Lai, Silvia, Terracciano, Alessandra, Novelli, Antonio, Novelli, Giuseppe

المصدر: Genes; May2024, Vol. 15 Issue 5, p597, 9p

مصطلحات موضوعية: POLYCYSTIC kidney disease, KIDNEY disease diagnosis, SYMPTOMS, KIDNEY glomerulus diseases, FOCAL segmental glomerulosclerosis

المؤلفون: Bonomi, Chiara Giuseppina, Bruno, Matilde, Colona, Vito Luigi, Bengala, Mario, Martorana, Alessandro

المصدر: Journal of the Neurological Sciences ; volume 458, page 122947 ; ISSN 0022-510X

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.1016/j.jns.2024.122947Test
https://api.elsevier.com/content/article/PII:S0022510X24000820?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022510X24000820?httpAccept=text/plainTest

المؤلفون: Albanese, Maria, Pescini, Francesca, Di Bonaventura, Chiara, Iannone, Luigi Francesco, Bianchi, Silvia, Poggesi, Anna, Bengala, Mario, Mercuri, Nicola Biagio, De Cesaris, Francesco

المصدر: Journal of Clinical Medicine; Apr2024, Vol. 13 Issue 7, p1870, 8p

مصطلحات موضوعية: CALCITONIN gene-related peptide, MIGRAINE aura, ERENUMAB, CEREBRAL small vessel diseases, PEPTIDE receptors, CEREBRAL ischemia

المؤلفون: Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shahryar, Faqeih, Eissa Ali, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad YV, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca Okashah, Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, François, Dutra-Clarke, Marina, Horvath, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, Anneke T, Herenger, Yvan, Dehghani, Mohammadreza, Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya E, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C, Redman, Melody, Stegmann, Alexander PA, Laner, Andreas, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Müller, Amelie Johanna, Digilio, Maria C, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, McLean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry, Maroofian, Reza

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Chromatinopathy, Mendelian disorders of the epigenetic machinery, PRMT7, Syndromic neurodevelopmental disorder, Syndromic obesity

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10160152Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10160152Test/