المؤلفون: Bestetti I., Crippa M., Sironi A., Bellini M., Tumiatti F., Ballabio S., Ceriotti F., Memo L., Iascone M., Larizza L., Finelli P.

المساهمون: I. Bestetti, M. Crippa, A. Sironi, M. Bellini, F. Tumiatti, S. Ballabio, F. Ceriotti, L. Memo, M. Iascone, L. Larizza, P. Finelli

مصطلحات موضوعية: Cornelia de Lange syndrome, NIPBL, RT-qPCR, bkps mapping, chromothripsi, complex chromosomal rearrangement, long-read sequencing, translocation, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38544803; info:eu-repo/semantics/altIdentifier/wos/WOS:001190880400001; volume:15; firstpage:1; lastpage:11; numberofpages:11; journal:FRONTIERS IN GENETICS; https://hdl.handle.net/2434/1045088Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85188558393

الإتاحة: https://doi.org/10.3389/fgene.2024.1358334Test
https://hdl.handle.net/2434/1045088Test

المؤلفون: Gil-Rodriguez, MC, Deardorff, MA, Ansari, M, Tan, CA, Parenti, I, Baquero-Montoya, C, Ousager, LB, Puisac, B, Hernandez-Marcos, M, Teresa-Rodrigo, ME, Marcos-Alcalde, I, Wesselink, JJ, Lusa-Bernal, S, Bijlsma, EK, Braunholz, D, Bueno-Martinez, I, Clark, D, Cooper, NS, Curry, CJ, Fisher, R, Fryer, A, Ganesh, J, Gervasini, C, Gillessen-Kaesbach, G, Guo, YR, Hakonarson, H, Hopkin, RJ, Kaur, M, Keating, BJ, Kibaek, M, Kinning, E, Kleefstra, T, Kline, AD, Kuchinskaya, E, Larizza, L, Li, YR, Liu, XZ, Mariani, M, Picker, JD, Pie, A, Pozojevic, J, Queralt, E, Richer, J, Roeder, E, Sinha, A, Scott, RH, So, J, Wusik, KA, Wilson, L, Zhang, JG, Gomez-Puertas, P, Casale, CH, Strom, L, Selicorni, A, Ramos, FJ, Jackson, LG, Krantz, ID, Das, S, Hennekam, RCM, Kaiser, FJ, FitzPatrick, DR, Pie, J

المصدر: Human mutation. 36(4):454-462

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:131076565Test

المؤلفون: Recalcati M. P., Catusi I., Garzo M., Redaelli S., Massimello M., Maitz S. B., Gentile M., Ponzi E., Orsini P., Zilio A., Montaldi A., Calo A., Capra A. P., Briuglia S., La Rosa M. A., Grillo L., Romano C., Bianca S., Malacarne M., Buse M., Piccione M., Larizza L.

المساهمون: Recalcati M.P., Catusi I., Garzo M., Redaelli S., Massimello M., Maitz S.B., Gentile M., Ponzi E., Orsini P., Zilio A., Montaldi A., Calo A., Capra A.P., Briuglia S., La Rosa M.A., Grillo L., Romano C., Bianca S., Malacarne M., Buse M., Piccione M., Larizza L.

مصطلحات موضوعية: 12q21 deletion, array-CGH, congenital anomalies, copy number variants (CNVs), developmental delay/intellectual disability (DD/ID), dysmorphisms, genetic counseling, loss of function, patient management, variation intolerant genes, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35627165; info:eu-repo/semantics/altIdentifier/wos/WOS:000802446100001; volume:13; issue:5; firstpage:780; numberofpages:12; journal:GENES; https://hdl.handle.net/10447/579212Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85129732267

الإتاحة: https://doi.org/10.3390/genes13050780Test
https://hdl.handle.net/10447/579212Test

المؤلفون: Sironi A., Bestetti I., Masciadri M., Tumiatti F., Crippa M., Pantaleoni C., Russo S., D'Arrigo S., Milani D., Larizza L., Finelli P.

المساهمون: A. Sironi, I. Bestetti, M. Masciadri, F. Tumiatti, M. Crippa, C. Pantaleoni, S. Russo, S. D'Arrigo, D. Milani, L. Larizza, P. Finelli

مصطلحات موضوعية: Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35821519; info:eu-repo/semantics/altIdentifier/wos/WOS:000823315800001; volume:30; issue:11; firstpage:1233; lastpage:1238; numberofpages:6; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/2434/963160Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85134033741

الإتاحة: https://doi.org/10.1038/s41431-022-01143-5Test
https://hdl.handle.net/2434/963160Test

المؤلفون: Alari V., Scalmani P., Ajmone P. F., Perego S., Avignone S., Catusi I., Lonati P. A., Borghi M. O., Finelli P., Terragni B., Mantegazza M., Russo S., Larizza L.

المساهمون: V. Alari, P. Scalmani, P.F. Ajmone, S. Perego, S. Avignone, I. Catusi, P.A. Lonati, M.O. Borghi, P. Finelli, B. Terragni, M. Mantegazza, S. Russo, L. Larizza

مصطلحات موضوعية: Histone deacetylase inhibitor, Hypoexcitability, Intellectual disability, IPSC-neuron, Morphological abnormalitie, Partial rescue, Rubinstein-Taybi, Trichostatin A, Valproic acid, Adolescent, Cell Differentiation, Cell Survival, Cells, Cultured, Child, E1A-Associated p300 Protein, Electroencephalography, Human, Hydroxamic Acid, Induced Pluripotent Stem Cell, Magnetic Resonance Imaging, Male, Membrane Potential, Mutation, Neuron, Patch-Clamp Technique, Rubinstein-Taybi Syndrome, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34071322; info:eu-repo/semantics/altIdentifier/wos/WOS:000660193700001; volume:22; issue:11; firstpage:1; lastpage:21; numberofpages:21; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/2434/866386Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106592156

الإتاحة: https://doi.org/10.3390/ijms22115777Test
http://hdl.handle.net/2434/866386Test

المؤلفون: Bestetti, I, Barbieri, C, Sironi, A, Specchia, V, Yatsenko, S A, De Donno, M D, Caslini, C, Gentilini, D, Crippa, M, Larizza, L, Marozzi, A, Rajkovic, A, Toniolo, D, Bozzetti, M P, Finelli, P

المساهمون: I. Bestetti, C. Barbieri, A. Sironi, V. Specchia, S.A. Yatsenko, M.D. De Donno, C. Caslini, D. Gentilini, M. Crippa, L. Larizza, A. Marozzi, A. Rajkovic, D. Toniolo, M.P. Bozzetti, P. Finelli

مصطلحات موضوعية: drosophila comparative analysis and modelling, case-control analysi, gene functional categorisation, primary ovarian insufficiency, whole-exome sequencing, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34480478; info:eu-repo/semantics/altIdentifier/wos/WOS:000743765900016; journal:HUMAN REPRODUCTION; http://hdl.handle.net/2434/866376Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85119303889

الإتاحة: https://doi.org/10.1093/humrep/deab192Test
http://hdl.handle.net/2434/866376Test

المؤلفون: Roversi G., Colombo E. A., Magnani I., Gervasini C., Maggiore G., Paradisi M., Larizza L.

المساهمون: G. Roversi, E.A. Colombo, I. Magnani, C. Gervasini, G. Maggiore, M. Paradisi, L. Larizza

مصطلحات موضوعية: Cancer predisposition, Chromosomal instability, FAM111B pathogenic variant, Pancreatic carcinoma, POIKTMP, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34358284; info:eu-repo/semantics/altIdentifier/wos/WOS:000683795200001; volume:44; issue:3; firstpage:1; lastpage:6; numberofpages:6; journal:GENETICS AND MOLECULAR BIOLOGY; http://hdl.handle.net/2434/869340Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85112724785

الإتاحة: https://doi.org/10.1590/1678-4685-GMB-2020-0332Test
http://hdl.handle.net/2434/869340Test

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 Giovanni Battista ., 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 Giovanni Battista ., 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; issue:october: Aricle number 955; firstpage:1; lastpage:13; numberofpages:13; journal:FRONTIERS IN GENETICS; http://hdl.handle.net/2318/1727560Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074284179; https://www.frontiersin.org/journals/geneticsTest#; https://www.ncbi.nlm.nih.gov/pubmed/?term=31749829Test

الإتاحة: https://doi.org/10.3389/fgene.2019.00955Test
http://hdl.handle.net/2318/1727560Test
https://www.frontiersin.org/journals/geneticsTest#
https://www.ncbi.nlm.nih.gov/pubmed/?term=31749829Test

المؤلفون: Crippa M., Bestetti I., Maitz S., Weiss K., Spano A., Masciadri M., Smithson S., Larizza L., Low K., Cohen L., Finelli P.

المساهمون: M. Crippa, I. Bestetti, S. Maitz, K. Wei, A. Spano, M. Masciadri, S. Smithson, L. Larizza, K. Low, L. Cohen, P. Finelli

مصطلحات موضوعية: 3p25 microdeletion syndrome, KBG syndrome, MRD23, SETD5 haploinsufficiency, WES, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32793091; info:eu-repo/semantics/altIdentifier/wos/WOS:000560527200001; volume:11; firstpage:1; lastpage:9; numberofpages:9; journal:FRONTIERS IN NEUROLOGY; http://hdl.handle.net/2434/761472Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089220639

الإتاحة: https://doi.org/10.3389/fneur.2020.00631Test
http://hdl.handle.net/2434/761472Test

المؤلفون: Di Fede E., Massa V., Augello B., Squeo G., Scarano E., Perri A. M., Fischetto R., Causio F. A., Zampino G., Piccione M., Curridori E., Mazza T., Castellana S., Larizza L., Ghelma F., Colombo E. A., Gandini M. C., Castori M., Merla G., Milani D., Gervasini C.

المساهمون: E. Di Fede, V. Massa, B. Augello, G. Squeo, E. Scarano, A.M. Perri, R. Fischetto, F.A. Causio, G. Zampino, M. Piccione, E. Curridori, T. Mazza, S. Castellana, L. Larizza, F. Ghelma, E.A. Colombo, M.C. Gandini, M. Castori, G. Merla, D. Milani, C. Gervasini

مصطلحات موضوعية: Settore MED/03 - Genetica Medica, Settore BIO/13 - Biologia Applicata

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32641752; info:eu-repo/semantics/altIdentifier/wos/WOS:000546546400001; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/752556Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85087714089

الإتاحة: https://doi.org/10.1038/s41431-020-0679-8Test
http://hdl.handle.net/2434/752556Test