المؤلفون: Bosch, E, Popp, B, Güse, E, Skinner, C, van der Sluijs, PJ, Maystadt, I, Pinto, AM, Renieri, A, Bruno, LP, Granata, S, Marcelis, C, Baysal, Ö, Hartwich, D, Holthöfer, L, Isidor, B, Cogne, B, Wieczorek, D, Capra, V, Scala, M, De Marco, P, Ognibene, M, Jamra, RA, Platzer, K, Carter, LB, Kuismin, O, van Haeringen, A, Maroofian, R, Valenzuela, I, Cuscó, I, Martinez-Agosto, JA, Rabani, AM, Mefford, HC, Pereira, EM, Close, C, Anyane-Yeboa, K, Wagner, M, Hannibal, MC, Zacher, P, Thiffault, I, Beunders, G, Umair, M, Bhola, PT, McGinnis, E, Millichap, J, van de Kamp, JM, Prijoles, EJ, Dobson, A, Shillington, A, Graham, BH, Garcia, EJ, Galindo, MK, Ropers, FG, Nibbeling, EAR, Hubbard, G, Karimov, C, Goj, G, Bend, R, Rath, J, Morrow, MM, Millan, F, Salpietro, V, Torella, A, Nigro, V, Kurki, M, Stevenson, RE, Santen, GWE, Zweier, M, Campeau, PM, Severino, M, Reis, A, Accogli, A, Vasileiou, G

المصدر: Genetics in Medicine , 25 (11) , Article 100950. (2023) (In press).

مصطلحات موضوعية: BAF, BAFopathy, Coffin-Siris syndrome, NDD, Nicolaides-Baraitser syndrome, SMARCC2, neurodevelopmental disorder

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181019/1/1-s2.0-S1098360023009632-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181019Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10181019/1/1-s2.0-S1098360023009632-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10181019Test/

المؤلفون: Sawadogo V., Granata S., Mazzoleni S., Zuccon A., Di Fiore A., Stellini E.

المساهمون: Sawadogo, V., Granata, S., Mazzoleni, S., Zuccon, A., Di Fiore, A., Stellini, E.

وصف الملف: ELETTRONICO

العلاقة: ispartofbook:Atti 27° Congresso nazionale Collegio dei Docenti Universitari di discipline Odontostomatologiche; Nuove Tecnologie, dalla Ricerca alla Clinica. Nessun effetto è in natura senza ragione; volume:12; firstpage:662; lastpage:663; numberofpages:2; http://hdl.handle.net/11577/3379370Test

الإتاحة: http://hdl.handle.net/11577/3379370Test

المؤلفون: Loberti, L. (Lorenzo), Bruno, L. P. (Lucia Pia), Granata, S. (Stefania), Doddato, G. (Gabriella), Resciniti, S. (Sara), Fava, F. (Francesca), Carullo, M. (Michele), Rahikkala, E. (Elisa), Jouret, G. (Guillaume), Menke, L. A. (Leonie A.), Lederer, D. (Damien), Vrielynck, P. (Pascal), Ryba, L. (Lukáš), Brunetti-Pierri, N. (Nicola), Lasa-Aranzasti, A. (Amaia), Cueto-González, A. M. (Anna Maria), Trujillano, L. (Laura), Valenzuela, I. (Irene), Tizzano, E. F. (Eduardo F.), Spinelli, A. M. (Alessandro Mauro), Bruno, I. (Irene), Currò, A. (Aurora), Stanzial, F. (Franco), Benedicenti, F. (Francesco), Lopergolo, D. (Diego), Santorelli, F. M. (Filippo Maria), Aristidou, C. (Constantia), Tanteles, G. A. (George A.), Maystadt, I. (Isabelle), Tkemaladze, T. (Tinatin), Reimand, T. (Tiia), Lokke, H. (Helen), Õunap, K. (Katrin), Haanpää, M. K. (Maria K.), Holubová, A. (Andrea), Zoubková, V. (Veronika), Schwarz, M. (Martin), Žordania, R. (Riina), Muru, K. (Kai), Roht, L. (Laura), Tihveräinen, A. (Annika), Teek, R. (Rita), Thomson, U. (Ulvi), Atallah, I. (Isis), Superti-Furga, A. (Andrea), Buoni, S. (Sabrina), Canitano, R. (Roberto), Scandurra, V. (Valeria), Rossetti, A. (Annalisa), Grosso, S. (Salvatore), Battini, R. (Roberta), Baldassarri, M. (Margherita), Mencarelli, M. A. (Maria Antonietta), Lo Rizzo, C. (Caterina), Bruttini, M. (Mirella), Mari, F. (Francesca), Ariani, F. (Francesca), Renieri, A. (Alessandra), Pinto, A. M. (Anna Maria)

وصف الملف: application/pdf

الإتاحة: http://urn.fi/urn:nbn:fi-fe2022102763568Test

المؤلفون: Loberti, L., Bruno, L.P., Granata, S., Doddato, G., Resciniti, S., Fava, F., Carullo, M., Rahikkala, E., Jouret, G., Menke, L.A., Lederer, D., Vrielynck, P., Ryba, L., Brunetti-Pierri, N., Lasa-Aranzasti, A., Cueto-González, A.M., Trujillano, L., Valenzuela, I., Tizzano, E.F., Spinelli, A.M., Bruno, I., Currò, A., Stanzial, F., Benedicenti, F., Lopergolo, D., Santorelli, F.M., Aristidou, C., Tanteles, G.A., Maystadt, I., Tkemaladze, T., Reimand, T., Lokke, H., Õunap, K., Haanpää, M.K., Holubová, A., Zoubková, V., Schwarz, M., Žordania, R., Muru, K., Roht, L., Tihveräinen, A., Teek, R., Thomson, U., Atallah, I., Superti-Furga, A., Buoni, S., Canitano, R., Scandurra, V., Rossetti, A., Grosso, S., Battini, R., Baldassarri, M., Mencarelli, M.A., Rizzo, C.L., Bruttini, M., Mari, F., Ariani, F., Renieri, A., Pinto, A.M.

المصدر: Human molecular genetics, vol. 31, no. 24, pp. 4131-4142

مصطلحات موضوعية: Pregnancy, Female, Humans, Facies, Tooth Abnormalities/genetics, Bone Diseases, Developmental/genetics, Abnormalities, Multiple/genetics, Multiple/diagnosis, Intellectual Disability/genetics, Intellectual Disability/diagnosis, Comparative Genomic Hybridization, Repressor Proteins/genetics, Phenotype, Dwarfism/genetics, European People

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35861666; info:eu-repo/semantics/altIdentifier/eissn/1460-2083; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_CD40BBEC41D30; https://serval.unil.ch/notice/serval:BIB_CD40BBEC41D3Test; urn:issn:0964-6906; https://serval.unil.ch/resource/serval:BIB_CD40BBEC41D3.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CD40BBEC41D30Test

الإتاحة: https://doi.org/10.1093/hmg/ddac167Test
https://serval.unil.ch/notice/serval:BIB_CD40BBEC41D3Test
https://serval.unil.ch/resource/serval:BIB_CD40BBEC41D3.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CD40BBEC41D30Test

المؤلفون: Bruschi M., La Porta E., Panfoli I., Candiano G., Petretto A., Vidal E., Kajana X., Bartolucci M., Granata S., Ghiggeri G. M., Zaza G., Verrina E.

المساهمون: Bruschi, M., La Porta, E., Panfoli, I., Candiano, G., Petretto, A., Vidal, E., Kajana, X., Bartolucci, M., Granata, S., Ghiggeri, G. M., Zaza, G., Verrina, E.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000709931300073; volume:11; issue:1; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/11390/1215602Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85117718783

الإتاحة: https://doi.org/10.1038/s41598-021-00324-4Test
http://hdl.handle.net/11390/1215602Test

المؤلفون: Lucafo M., Granata S., Bonten E. J., McCorkle R., Stocco G., Caletti C., Selvestrel D., Cozzarolo A., Zou C., Cuzzoni E., Pasini A., Montini G., Gambaro G., Decorti G., Evans W., Zaza G.

المساهمون: Lucafo, M., Granata, S., Bonten, E. J., Mccorkle, R., Stocco, G., Caletti, C., Selvestrel, D., Cozzarolo, A., Zou, C., Cuzzoni, E., Pasini, A., Montini, G., Gambaro, G., Decorti, G., Evans, W., Zaza, G.

مصطلحات موضوعية: idiopathic nephrotic syndrome, glucocorticoids, methylation

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33382913; info:eu-repo/semantics/altIdentifier/wos/WOS:000611405100001; volume:14; issue:3; firstpage:964; lastpage:975; numberofpages:12; journal:CLINICAL AND TRANSLATIONAL SCIENCE; http://hdl.handle.net/11368/3004715Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099980459

الإتاحة: https://doi.org/10.1111/cts.12961Test
http://hdl.handle.net/11368/3004715Test

المؤلفون: De Francesco M., Stellini E., Granata S., Mazzoleni S., Ludovichetti F. S., Monaco C., Di Fiore A.

المساهمون: De Francesco, M., Stellini, E., Granata, S., Mazzoleni, S., Ludovichetti, F. S., Monaco, C., Di Fiore, A.

مصطلحات موضوعية: CAD/CAM, Dental implant, Digital impression, Full-arch, Intraoral scanner

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000666268900001; volume:11; issue:12; firstpage:5617; lastpage:N/A; journal:APPLIED SCIENCES; http://hdl.handle.net/11380/1281221Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85109077687

الإتاحة: https://doi.org/10.3390/app11125617Test
http://hdl.handle.net/11380/1281221Test

المؤلفون: Bruno L. P., Doddato G., Valentino F., Baldassarri M., Tita R., Fallerini C., Bruttini M., Rizzo C. L., Mencarelli M. A., Mari F., Pinto A. M., Fava F., Fabbiani A., Lamacchia V., Carrer A., Caputo V., Granata S., Benetti E., Zguro K., Furini S., Renieri A., Ariani F.

المساهمون: Bruno L. P., Doddato G., Valentino F., Baldassarri M., Tita R., Fallerini C., Bruttini M., Rizzo C. L., Mencarelli M. A., Mari F., Pinto A. M., Fava F., Fabbiani A., Lamacchia V., Carrer A., Caputo V., Granata S., Benetti E., Zguro K., Furini S., Renieri A., Ariani F.

مصطلحات موضوعية: Autism, Intellectual disability, Whole-exome sequencing, Adolescent, Autistic Disorder, Child, Female, Human, Male, Genetic Loci, Genetic Predisposition to Disease, Whole Exome Sequencing

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34948243; info:eu-repo/semantics/altIdentifier/wos/WOS:000738150000001; volume:22; issue:24; firstpage:1; lastpage:11; numberofpages:11; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11585/893092Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121035254; https://www.mdpi.com/1422-0067/22/24/13439Test

الإتاحة: https://doi.org/10.3390/ijms222413439Test
https://hdl.handle.net/11585/893092Test
https://www.mdpi.com/1422-0067/22/24/13439Test

المؤلفون: Granata, S, Valtorta, S, Rainone, P, De Pretis, S, Diprima, S, Zerbetto, F, Villa, S, Di Muzio, N, Moresco, RM

المساهمون: Granata, S, Valtorta, S, Rainone, P, De Pretis, S, Diprima, S, Zerbetto, F, Villa, S, Di Muzio, N, Moresco, R

مصطلحات موضوعية: NGS, Radiotherapy, scRNA-Seq, in vivo, glioblastoma

العلاقة: Congresso Nazionale SITOX; https://hdl.handle.net/10281/404610Test

الإتاحة: https://hdl.handle.net/10281/404610Test

المؤلفون: Vivarelli F., Granata S., Morosini C., Rullo L., Paolini M., Canistro D

المساهمون: Vivarelli F., Granata S., Morosini C., Rullo L., Paolini M., Canistro D

مصطلحات موضوعية: E-cigarette, IQOS, Testis

وصف الملف: ELETTRONICO

العلاقة: ispartofbook:N/A; 21° Congresso Nazionale della SITOX; https://hdl.handle.net/11585/917130Test

الإتاحة: https://hdl.handle.net/11585/917130Test