المؤلفون: Crippa M., Bonati M. T., Calzari L., Picinelli C., Gervasini C., Sironi A., Bestetti I., Guzzetti S., Bellone S., Selicorni A., Mussa A., Riccio A., Ferrero G. B., Russo S., Larizza L., Finelli P.

المساهمون: Crippa, M., Bonati, M. T., Calzari, L., Picinelli, C., Gervasini, C., Sironi, A., Bestetti, I., Guzzetti, S., Bellone, S., Selicorni, A., Mussa, A., Riccio, A., Ferrero, G. B., Russo, S., Larizza, L., Finelli, P.

مصطلحات موضوعية: array CGH, differential diagnosi, Netchine–Harbison clinical scoring system, pathogenic CNV, Silver–Russell syndrome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31749829; info:eu-repo/semantics/altIdentifier/wos/WOS:000497430200001; volume:10; firstpage:955; journal:FRONTIERS IN GENETICS; http://hdl.handle.net/11579/108447Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074284179; https://www.frontiersin.org/journals/geneticsTest#

الإتاحة: https://doi.org/10.3389/fgene.2019.00955Test
http://hdl.handle.net/11579/108447Test
https://www.frontiersin.org/journals/geneticsTest#

المؤلفون: Crippa M., Malatesta P., Bonati M. T., Trapasso F., Fortunato F., Annesi G., Larizza L., Labate A., Finelli P., Perrotti N., Gambardella A.

المساهمون: M. Crippa, P. Malatesta, M.T. Bonati, F. Trapasso, F. Fortunato, G. Annesi, L. Larizza, A. Labate, P. Finelli, N. Perrotti, A. Gambardella

مصطلحات موضوعية: Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32315120; info:eu-repo/semantics/altIdentifier/wos/WOS:000527028000001; volume:7; issue:5; firstpage:855; lastpage:859; numberofpages:5; journal:ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; https://hdl.handle.net/2434/963176Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083633044

الإتاحة: https://doi.org/10.1002/acn3.51040Test
https://hdl.handle.net/2434/963176Test

المؤلفون: Ferrari L., Mangano E., Bonati M. T., Monterosso I., Capitanio D., Chiappori F., Brambilla I., Gelfi C., Battaglia C., Bordoni R., Riva P.

المساهمون: L. Ferrari, E. Mangano, M.T. Bonati, I. Monterosso, D. Capitanio, F. Chiappori, I. Brambilla, C. Gelfi, C. Battaglia, R. Bordoni, P. Riva

مصطلحات موضوعية: Settore BIO/13 - Biologia Applicata

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32514133; info:eu-repo/semantics/altIdentifier/wos/WOS:000538959900004; volume:2020; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/755811Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086172702

الإتاحة: https://doi.org/10.1038/s41431-020-0658-0Test
http://hdl.handle.net/2434/755811Test

المؤلفون: Cogliati F., Giorgini V., Masciadri M., Bonati M. T., Marchi M., Cracco I., Gentilini D., Peron A., Savini M. N., Spaccini L., Scelsa B., Maitz S., Veneselli E., PRATO, GIADA, Pintaudi M., Moroni I., Vignoli A., Larizza L., Russo S.

المساهمون: F. Cogliati, V. Giorgini, M. Masciadri, M.T. Bonati, M. Marchi, I. Cracco, D. Gentilini, A. Peron, M.N. Savini, L. Spaccini, B. Scelsa, S. Maitz, E. Veneselli, G. Prato, M. Pintaudi, I. Moroni, A. Vignoli, L. Larizza, S. Russo

مصطلحات موضوعية: Atypical RTT, GABAa receptors gene, NGS, STXBP1, Settore MED/39 - Neuropsichiatria Infantile, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31344879; info:eu-repo/semantics/altIdentifier/wos/WOS:000482383000014; volume:20; issue:15; firstpage:1; lastpage:18; numberofpages:18; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/2434/686376Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070609640

الإتاحة: https://doi.org/10.3390/ijms20153621Test
http://hdl.handle.net/2434/686376Test

المؤلفون: Saettini F., Fazio G., Bonati M. T., Moratto D., Massa V., Di Fede E., Castiglioni S., Marchetti D., Chiarini M., Sottini A., Iascone M., Cazzaniga G., Imberti L., Biondi A., Gervasini C., Badolato R.

المساهمون: Saettini, F., Fazio, G., Bonati, M. T., Moratto, D., Massa, V., Di Fede, E., Castiglioni, S., Marchetti, D., Chiarini, M., Sottini, A., Iascone, M., Cazzaniga, G., Imberti, L., Biondi, A., Gervasini, C., Badolato, R.

مصطلحات موضوعية: CREBBP, EP300, inborn errors of immunity, Rubinstein–Taybi syndrome, syndromic immunodeficiency

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35266289; info:eu-repo/semantics/altIdentifier/wos/WOS:000766384600001; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11379/555349Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85125947521

الإتاحة: https://doi.org/10.1002/ajmg.a.62719Test
http://hdl.handle.net/11379/555349Test

المؤلفون: Bestetti I., Crippa M., Sironi A., Tumiatti F., Masciadri M., Smeland M. F., Naik S., Murch O., Bonati M. T., Spano A., Cattaneo E., Mariani M., Gotta F., Crosti F., Cavalli P., Pantaleoni C., Natacci F., Bedeschi M. F., Milani D., Maitz S., Selicorni A., Spaccini L., Peron A., Russo S., Larizza L., Low K., Finelli P.

المساهمون: I. Bestetti, M. Crippa, A. Sironi, F. Tumiatti, M. Masciadri, M.F. Smeland, S. Naik, O. Murch, M.T. Bonati, A. Spano, E. Cattaneo, M. Mariani, F. Gotta, F. Crosti, P. Cavalli, C. Pantaleoni, F. Natacci, M.F. Bedeschi, D. Milani, S. Maitz, A. Selicorni, L. Spaccini, A. Peron, S. Russo, L. Larizza, K. Low, P. Finelli

مصطلحات موضوعية: ANKRD11 gene expression analysi, ANKRD11 variation, KBG syndrome, diagnostic flow chart, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35682590; info:eu-repo/semantics/altIdentifier/wos/WOS:000809958000001; volume:23; issue:11; firstpage:1; lastpage:16; numberofpages:16; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/2434/963159Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85130794381

الإتاحة: https://doi.org/10.3390/ijms23115912Test
https://hdl.handle.net/2434/963159Test

المؤلفون: Varenna, M, Crotti, C, Bonati, M T, Zucchi, F, Gallazzi, M, Caporali, R

المساهمون: M. Varenna, C. Crotti, M.T. Bonati, F. Zucchi, M. Gallazzi, R. Caporali

مصطلحات موضوعية: Bone marrow oedema, Collagen defect, Osteogenesis imperfecta, Transient regional osteoporosi, Adult, Collagen Type I, alpha 1 Chain, Human, Male, Mutation, Osteoporosi, Settore MED/16 - Reumatologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34463844; info:eu-repo/semantics/altIdentifier/wos/WOS:000691640300002; volume:33; issue:1; firstpage:299; lastpage:303; numberofpages:5; journal:OSTEOPOROSIS INTERNATIONAL; https://hdl.handle.net/2434/943117Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85113931288

الإتاحة: https://doi.org/10.1007/s00198-021-06135-7Test
https://hdl.handle.net/2434/943117Test

المؤلفون: Romaniello R., Gagliardi C., Desalvo P., Provenzi L., Battini R., Bertini E., Bonati M. T., Briguglio M., D'Arrigo S., Dotti M. T., Giordano L., Macaluso C., Moroni I., Nuovo S., Santucci M., Signorini S., Stanzial F., Valente E. M., Borgatti R.

المساهمون: Romaniello, R., Gagliardi, C., Desalvo, P., Provenzi, L., Battini, R., Bertini, E., Bonati, M. T., Briguglio, M., D'Arrigo, S., Dotti, M. T., Giordano, L., Macaluso, C., Moroni, I., Nuovo, S., Santucci, M., Signorini, S., Stanzial, F., Valente, E. M., Borgatti, R.

مصطلحات موضوعية: Developmental disability, genetic syndrome, international classification of functioning, joubert syndrome, rare disease

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34010585; info:eu-repo/semantics/altIdentifier/wos/WOS:000652161100001; firstpage:1; lastpage:8; numberofpages:8; journal:DISABILITY AND REHABILITATION; http://hdl.handle.net/11568/1115928Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106026681

الإتاحة: https://doi.org/10.1080/09638288.2021.1922516Test
http://hdl.handle.net/11568/1115928Test

المؤلفون: Varenna, M., Crotti, C., Bonati, M. T., Zucchi, F., Gallazzi, M., Caporali, R.

المصدر: Osteoporosis International ; volume 33, issue 1, page 299-303 ; ISSN 0937-941X 1433-2965

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1007/s00198-021-06135-7Test

المؤلفون: Graziano F., Biino G., Bonati M. T., Neale B. M., Do R., Concas M. P., Vaccargiu S., Pirastu M., Terradura-Vagnarelli O., Cirillo M., Laurenzi M., Mancini M., Zanchetti A., Grassi M.

المساهمون: Graziano, F., Biino, G., Bonati, M. T., Neale, B. M., Do, R., Concas, M. P., Vaccargiu, S., Pirastu, M., Terradura-Vagnarelli, O., Cirillo, M., Laurenzi, M., Mancini, M., Zanchetti, A., Grassi, M.

مصطلحات موضوعية: Cohort Studie, Population, Genomic, Genotype, Metabolic Syndrome, Heritability Models, Genome-Wide Association Study, Polymorphism

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31154530; info:eu-repo/semantics/altIdentifier/wos/WOS:000474370900005; volume:138; issue:7; firstpage:739; lastpage:748; numberofpages:10; journal:HUMAN GENETICS; http://hdl.handle.net/11571/1392655Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85066785318

الإتاحة: https://doi.org/10.1007/s00439-019-02024-6Test
http://hdl.handle.net/11571/1392655Test