المؤلفون: Di Stasi M., Cocozza S., Buccino S., Paolella C., Di Napoli L., D'Amico A., Melis D., Ugga L., Villano G., Ruocco M., Scala I., Brunetti A., Elefante A.

المساهمون: Di Stasi, M., Cocozza, S., Buccino, S., Paolella, C., Di Napoli, L., D'Amico, A., Melis, D., Ugga, L., Villano, G., Ruocco, M., Scala, I., Brunetti, A., Elefante, A.

مصطلحات موضوعية: Cognitive impairment, MRI, Neurofibromatosis type1, UBOs

العلاقة: journal:ACTA NEUROLOGICA BELGICA; https://hdl.handle.net/11588/947480Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85171661573

الإتاحة: https://doi.org/10.1007/s13760-023-02381-0Test
https://hdl.handle.net/11588/947480Test

المؤلفون: Arslanhan, Melis D., Cengiz-Emek, Seyma, Odabasi, Ezgi, Steib, Emmanuelle, Hamel, Virginie, Guichard, Paul, Firat-Karalar, Elif Nur

المصدر: JOURNAL OF CELL BIOLOGY 222(12) 30

العلاقة: https://aperta.ulakbim.gov.tr/record/268324Test; oai:aperta.ulakbim.gov.tr:268324

الإتاحة: https://aperta.ulakbim.gov.tr/record/268324Test

المؤلفون: Mao, K., Borel, C., Ansar, M., Jolly, A., Makrythanasis, P., Froehlich, C., Iwaszkiewicz, J., Wang, B., Xu, X., Li, Q., Blanc, X., Zhu, H., Chen, Q., Jin, F., Ankamreddy, H., Singh, S., Zhang, H., Wang, X., Chen, P., Ranza, E., Paracha, S.A., Shah, S.F., Guida, V., Piceci-Sparascio, F., Melis, D., Dallapiccola, B., Digilio, M.C., Novelli, A., Magliozzi, M., Fadda, M.T., Streff, H., Machol, K., Lewis, R.A., Zoete, V., Squeo, G.M., Prontera, P., Mancano, G., Gori, G., Mariani, M., Selicorni, A., Psoni, S., Fryssira, H., Douzgou, S., Marlin, S., Biskup, S., De Luca, A., Merla, G., Zhao, S., Cox, T.C., Groves, A.K., Lupski, J.R., Zhang, Q., Zhang, Y.B., Antonarakis, S.E.

المصدر: Nature communications, vol. 14, no. 1, pp. 2026

مصطلحات موضوعية: Animals, Mice, Goldenhar Syndrome/pathology, Facial Asymmetry, Pedigree, Forkhead Transcription Factors

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37041148; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_0699EC8ECF822; https://serval.unil.ch/notice/serval:BIB_0699EC8ECF82Test; urn:issn:2041-1723; https://serval.unil.ch/resource/serval:BIB_0699EC8ECF82.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0699EC8ECF822Test

الإتاحة: https://doi.org/10.1038/s41467-023-37703-6Test
https://serval.unil.ch/notice/serval:BIB_0699EC8ECF82Test
https://serval.unil.ch/resource/serval:BIB_0699EC8ECF82.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0699EC8ECF822Test

المؤلفون: Siano, M. A., Pivonello, R., Salerno, M., Falco, M., Mauro, C., De Brasi, D., Klain, A., Sestito, S., De Luca, A., Pinna, V., Simeoli, C., Concolino, D., Mainolfi, Ciro Gabriele, Mannarino, T., Strisciuglio, P., Tartaglia, M., Melis, D.

المصدر: Frontiers in Endocrinology ; volume 13 ; ISSN 1664-2392

الإتاحة: https://doi.org/10.3389/fendo.2022.1030398Test

المؤلفون: Guida V., Calzari L., Fadda M. T., Piceci-Sparascio F., Digilio M. C., Bernardini L., Brancati F., Mattina T., Melis D., Forzano F., Briuglia S., Mazza T., Bianca S., Valente E. M., Salehi L. B., Prontera P., Pagnoni M., Tenconi R., Dallapiccola B., Iannetti G., Corsaro L., Luca A. D., Gentilini D.

المساهمون: Guida, V., Calzari, L., Fadda, M. T., Piceci-Sparascio, F., Digilio, M. C., Bernardini, L., Brancati, F., Mattina, T., Melis, D., Forzano, F., Briuglia, S., Mazza, T., Bianca, S., Valente, E. M., Salehi, L. B., Prontera, P., Pagnoni, M., Tenconi, R., Dallapiccola, B., Iannetti, G., Corsaro, L., Luca, A. D., Gentilini, D.

مصطلحات موضوعية: DNA-methylation, genome-wide, infinium human methylation 450K beadChip, OAVS, oculo-auriculo-vertebral spectrum, retinoic acid, eye, human, signal transduction, graves ophthalmopathy, interleukin-8

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33530447; info:eu-repo/semantics/altIdentifier/wos/WOS:000615288600001; volume:22; issue:3; firstpage:1; lastpage:19; numberofpages:19; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11573/1555518Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099950529

الإتاحة: https://doi.org/10.3390/ijms22031190Test
http://hdl.handle.net/11573/1555518Test

المؤلفون: Orlando F, Naddei R, Stellacci E, Gallinoro CM, Melis D, Tartaglia M, Alessio M.

المساهمون: Orlando, F, Naddei, R, Stellacci, E, Gallinoro, Cm, Melis, D, Tartaglia, M, Alessio, M.

مصطلحات موضوعية: Autoinflammatory syndrome, Etanercept, SIFD, TNF inhibitor, TRNT1

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000623716700001; journal:CLINICAL RHEUMATOLOGY; http://hdl.handle.net/11588/857603Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101923214

الإتاحة: https://doi.org/10.1007/s10067-021-05653-3Test
http://hdl.handle.net/11588/857603Test

المؤلفون: Cappuccio G., Caiazza M., Roca A., Melis D., Iuliano A., Matyas G., Rubino M., Limongelli G., Brunetti-Pierri N.

المساهمون: Cappuccio, G., Caiazza, M., Roca, A., Melis, D., Iuliano, A., Matyas, G., Rubino, M., Limongelli, G., Brunetti-Pierri, N.

مصطلحات موضوعية: losartan, Myhre syndrome, SMAD4, systemic sclerosi, TGF-beta, Adolescent, Adult, Angiotensin II Type 1 Receptor Blocker, Child, Preschool, Cryptorchidism, Facie, Female, Follow-Up Studie, Growth Disorder, Hand Deformities, Congenital, Human, Intellectual Disability, Male, Pilot Project, Prognosi, Young Adult

العلاقة: volume:185; issue:3; firstpage:702; lastpage:709; numberofpages:8; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11563/153057Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099504377

الإتاحة: https://doi.org/10.1002/ajmg.a.62019Test
https://hdl.handle.net/11563/153057Test

المؤلفون: Bunne, C, Alvarez-Melis, D, Krause, A, Jegelka, S

المصدر: arXiv

وصف الملف: application/pdf

العلاقة: http://proceedings.mlr.press/v97/bunne19aTest; 36th International Conference on Machine Learning, ICML 2019; https://hdl.handle.net/1721.1/132307Test

الإتاحة: https://hdl.handle.net/1721.1/132307Test

المؤلفون: Arslanhan, Melis D, Rauniyar, Navin, Yates, John R, Firat‐Karalar, Elif N

المساهمون: H2020 European Research Council, National Institute of General Medical Sciences

المصدر: EMBO reports ; volume 22, issue 8 ; ISSN 1469-221X 1469-3178

مصطلحات موضوعية: Genetics, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.15252/embr.202051902Test

المؤلفون: Siano, M. A., Marchetti, V., Pagano, S., Di Candia, F., Alessio, M., De Brasi, D., De Luca, A., Pinna, V., Sestito, S., Concolino, D., Tartaglia, M., Strisciuglio, P., D’Esposito, V., Cabaro, S., Perruolo, G., Formisano, P., Melis, D.

المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-021-02050-6Test