المؤلفون: Monfrini, Edoardo, Pelucchi, Sara, Hollmén, Maija, Viitala, Miro, Mariani, Raffaella, Bertola, Francesca, Majore, Silvia, Di Fonzo, Alessio, Piperno, Alberto

المصدر: The American Journal of Human Genetics ; volume 110, issue 8, page 1436-1443 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.07.004Test
https://api.elsevier.com/content/article/PII:S0002929723002458?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929723002458?httpAccept=text/plainTest

المؤلفون: Leone, Maria Pia, Morlino, Silvia, Nardella, Grazia, Pracella, Riccardo, Giachino, Daniela, Celli, Luca, Baldo, Demetrio, Turolla, Licia, Piccione, Maria, Salzano, Emanuela, Busè, Martina, Lastella, Patrizia, Zollino, Marcella, Cantone, Rachele, Grosso, Enrico, Zonta, Andrea, Pasini, Barbara, Piscopo, Carmelo, De Maggio, Ilaria, Priolo, Manuela, Mammi, Corrado, Foiadelli, Thomas, Trabatti, Chiara, Savasta, Salvatore, Iolascon, Achille, Ferraris, Alessandro, Lodato, Valentina, Di Giosaffatte, Niccolò, Majore, Silvia, Selicorni, Angelo, Petracca, Antonio, Fusco, Carmela, Celli, Mauro, Guarnieri, Vito, Micale, Lucia, Castori, Marco

المساهمون: Leone M.P., Morlino S., Nardella G., Pracella R., Giachino D., Celli L., Baldo D., Turolla L., Piccione M., Salzano E., Busè M., Lastella P., Zollino M., Cantone R., Grosso E., Zonta A., Pasini B., Piscopo C., De Maggio I., Priolo M., Mammi C., Foiadelli T., Trabatti C., Savasta S., Iolascon A., Ferraris A., Lodato V., Di Giosaffatte N., Majore S., Selicorni A., Petracca A., Fusco C., Celli M., Guarnieri V., Micale L., Castori M.

المصدر: Human Genetics. 142:785-808

مصطلحات موضوعية: ACMG/AMP criteria, variants in collagen genes, joint hypermobility, Genetics, ACMG/AMP criteria, collagen genes, hereditary connective tissue disorders (HCTD), Settore MED/03 - GENETICA MEDICA, hereditary connective tissue disorders (HCTD), ACMG/AMP criteria, collagen genes, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d509ac95481aba564725342f4ace1ba9Test
https://doi.org/10.1007/s00439-023-02547-zTest

المؤلفون: Colombo, Elisa Adele, Valiante, Michele, Uggeri, Matteo, Orro, Alessandro, Majore, Silvia, Grammatico, Paola, Gentilini, Davide, Finelli, Palma, Gervasini, Cristina, D'Ursi, Pasqualina, Larizza, Lidia

المساهمون: Colombo, Elisa Adele, Valiante, Michele, Uggeri, Matteo, Orro, Alessandro, Majore, Silvia, Grammatico, Paola, Gentilini, Davide, Finelli, Palma, Gervasini, Cristina, D'Ursi, Pasqualina, Larizza, Lidia

مصطلحات موضوعية: FG repeat, NUP98 variant, Rothmund–Thomson spectrum, endocrine perturbation, intrinsic disordered region, juvenile cataract, protein molecular modeling, whole exome sequencing

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36835439; info:eu-repo/semantics/altIdentifier/wos/WOS:000938577900001; volume:24; issue:4; firstpage:4028; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11573/1687412Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149052925

الإتاحة: https://doi.org/10.3390/ijms24044028Test
https://hdl.handle.net/11573/1687412Test

المؤلفون: Bottillo, Irene, Savino, Emanuele, Majore, Silvia, Mulargia, Claudia, Valiante, Michele, Ferraris, Alessandro, Rossi, Valentina, Svegliati, Francesca, Ciccone, Maria Pia, Brusco, Francesca, Grammatico, Barbara, Di Giacomo, Gianluca, Bargiacchi, Simone, D'Angelantonio, Daniela, Grammatico, Paola

المساهمون: Bottillo, Irene, Savino, Emanuele, Majore, Silvia, Mulargia, Claudia, Valiante, Michele, Ferraris, Alessandro, Rossi, Valentina, Svegliati, Francesca, Ciccone, Maria Pia, Brusco, Francesca, Grammatico, Barbara, Di Giacomo, Gianluca, Bargiacchi, Simone, D'Angelantonio, Daniela, Grammatico, Paola

مصطلحات موضوعية: CHEK2, chromosomal instability, biallelic mutations, multiple translocations

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36529819; info:eu-repo/semantics/altIdentifier/wos/WOS:000900187200002; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11573/1663103Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85144202660

الإتاحة: https://doi.org/10.1038/s41431-022-01270-zTest
https://hdl.handle.net/11573/1663103Test

المؤلفون: Harms, Frederike L, Dingemans, Alexander J M, Hempel, Maja, Pfundt, Rolph, Bierhals, Tatjana, Casar, Christian, Müller, Christian, Niermeijer, Jikke-Mien F, Fischer, Jan, Jahn, Arne, Hübner, Christoph, Majore, Silvia, Agolini, Emanuele, Novelli, Antonio, van der Smagt, Jasper, Ernst, Robert, van Binsbergen, Ellen, Mancini, Grazia M S, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Wakeling, Emma L, Kamath, Arveen, Downie, Lilian, Pais, Lynn, White, Susan M, de Vries, Bert B A, Kutsche, Kerstin

المصدر: Harms , F L , Dingemans , A J M , Hempel , M , Pfundt , R , Bierhals , T , Casar , C , Müller , C , Niermeijer , J-M F , Fischer , J , Jahn , A , Hübner , C , Majore , S , Agolini , E , Novelli , A , van der Smagt , J , Ernst , R , van Binsbergen , E , Mancini , G M S , van Slegtenhorst , M , Barakat , T S , Wakeling , E L , Kamath , A ....

العلاقة: https://pure.eur.nl/en/publications/1ad32a27-6deb-4247-91f1-ed32ec01007aTest

الإتاحة: https://doi.org/10.1016/j.gim.2023.100927Test
https://pure.eur.nl/en/publications/1ad32a27-6deb-4247-91f1-ed32ec01007aTest
http://www.scopus.com/inward/record.url?scp=85166912847&partnerID=8YFLogxKTest

المؤلفون: Harms, Frederike L., Dingemans, Alexander J.M., Hempel, Maja, Pfundt, Rolph, Bierhals, Tatjana, Casar, Christian, Müller, Christian, Niermeijer, Jikke-Mien F., Fischer, Jan, Jahn, Arne, Hübner, Christoph, Majore, Silvia, Agolini, Emanuele, Novelli, Antonio, van der Smagt, Jasper, Ernst, Robert, van Binsbergen, Ellen, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Wakeling, Emma L., Kamath, Arveen, Downie, Lilian, Pais, Lynn, White, Susan M., de Vries, Bert B.A., Kutsche, Kerstin

المصدر: Genetics in Medicine ; volume 25, issue 11, page 100964 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2023.100964Test
https://api.elsevier.com/content/article/PII:S1098360023009802?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023009802?httpAccept=text/plainTest

المؤلفون: Di Giosaffatte, Niccolò, Ferraris, Alessandro, Gaudioso, Federica, Lodato, Valentina, Savino, Emanuele, Celletti, Claudia, Camerota, Filippo, Bargiacchi, Simone, Laino, Luigi, Majore, Silvia, Bottillo, Irene, Grammatico, Paola

المساهمون: Di Giosaffatte, Niccolò, Ferraris, Alessandro, Gaudioso, Federica, Lodato, Valentina, Savino, Emanuele, Celletti, Claudia, Camerota, Filippo, Bargiacchi, Simone, Laino, Luigi, Majore, Silvia, Bottillo, Irene, Grammatico, Paola

مصطلحات موضوعية: ACLP, AEBP1, Ehlers–Danlos Syndrome, Poland anomaly, TGF-β pathway, amniotic band sequence, clEDS2, cleft palate, multiple congenital anomalies

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36553625; info:eu-repo/semantics/altIdentifier/wos/WOS:000901248700001; volume:13; issue:12; firstpage:2358; journal:GENES; https://hdl.handle.net/11573/1663105Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85144538958

الإتاحة: https://doi.org/10.3390/genes13122358Test
https://hdl.handle.net/11573/1663105Test

المؤلفون: Majore, Silvia, Bonaccorsi di Patti, Maria Carmela, Valiante, Michele, Polticelli, Fabio, Cortese, Andrea, Di Bartolomeo, Sabrina, De Bernardo, Carmelilia, De Muro, Marianna, Faienza, Fiorella, Radio, Francesca Clementina, Grammatico, Paola, Musci, Giovanni

المساهمون: Vifor Pharma

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ; volume 1864, issue 2, page 464-470 ; ISSN 0925-4439

مصطلحات موضوعية: Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.bbadis.2017.11.006Test
https://api.elsevier.com/content/article/PII:S0925443917304283?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0925443917304283?httpAccept=text/plainTest

المؤلفون: Bottillo, Irene, Savino, Emanuele, Majore, Silvia, Mulargia, Claudia, Valiante, Michele, Ferraris, Alessandro, Rossi, Valentina, Svegliati, Francesca, Ciccone, Maria Pia, Brusco, Francesca, Grammatico, Barbara, Di Giacomo, Gianluca, Bargiacchi, Simone, D’Angelantonio, Daniela, Grammatico, Paola

المصدر: European Journal of Human Genetics ; volume 31, issue 4, page 474-478 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-022-01270-zTest
https://www.nature.com/articles/s41431-022-01270-z.pdfTest
https://www.nature.com/articles/s41431-022-01270-zTest

المؤلفون: Cosentino, Ilaria, Zeri, Fabrizio, Swann, Peter, Majore, Silvia, Radio, Francesca Clementina, Palumbo, Paolo, Grammatico, Paola, Petitti, Vincenzo

المصدر: Ophthalmic Genetics

وصف الملف: application/pdf

العلاقة: https://eprints.qut.edu.au/92752/18/92752.pdfTest; Cosentino, Ilaria, Zeri, Fabrizio, Swann, Peter, Majore, Silvia, Radio, Francesca Clementina, Palumbo, Paolo, Grammatico, Paola, & Petitti, Vincenzo (2016) Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family. Ophthalmic Genetics, 37(3), pp. 318-322.; https://eprints.qut.edu.au/92752Test/; Faculty of Health

الإتاحة: https://doi.org/10.3109/13816810.2015.1059460Test
https://eprints.qut.edu.au/92752Test/