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1Academic Journal
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
Relation: 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/10447/579212
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2Academic Journal
المؤلفون: Alari V., Russo S., Rovina D., Garzo M., Crippa M., Calzari L., Scalera C., Concolino D., Castiglioni E., Giardino D., Prosperi E., Finelli P., Gervasini C., Gowran A., Larizza L.
المساهمون: V. Alari, S. Russo, D. Rovina, M. Garzo, M. Crippa, L. Calzari, C. Scalera, D. Concolino, E. Castiglioni, D. Giardino, E. Prosperi, P. Finelli, C. Gervasini, A. Gowran, L. Larizza
مصطلحات موضوعية: Settore MED/03 - Genetica Medica
Relation: info:eu-repo/semantics/altIdentifier/pmid/31491690; info:eu-repo/semantics/altIdentifier/wos/WOS:000491224500041; volume:40; numberofpages:5; journal:STEM CELL RESEARCH; http://hdl.handle.net/2434/680637; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85071553716
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3Academic Journal
المؤلفون: Catusi I., Garzo M., Capra A. P., Briuglia S., Baldo C., Canevini M. P., Cantone R., Elia F., Forzano F., Galesi O., Grosso E., Malacarne M., Peron A., Romano C., Saccani M., Larizza L., Recalcati M. P.
المساهمون: Catusi, I., Garzo, M., Capra, A. P., Briuglia, S., Baldo, C., Canevini, M. P., Cantone, R., Elia, F., Forzano, F., Galesi, O., Grosso, E., Malacarne, M., Peron, A., Romano, C., Saccani, M., Larizza, L., Recalcati, M. P.
مصطلحات موضوعية: 8p23.2-pter microdeletion, 8p23.3, ARGHEF10, Behavior disorder, Candidate region, Chromosomal microarray analysis (CMA), Critical microdeletion region (CR), Developmental delay, DLGAP2, Small deletion, Adolescent, Adult, Autism Spectrum Disorder, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 8, Cognitive Dysfunction, Developmental Disabilitie, Female, Infant, Intellectual Disability, Male, Microcephaly, Phenotype, Sequence Deletion
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/33925474; info:eu-repo/semantics/altIdentifier/wos/WOS:000654005800001; volume:12; issue:5; firstpage:1; lastpage:17; numberofpages:17; journal:GENES; http://hdl.handle.net/11570/3208929; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105152010
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4Electronic Resource
المؤلفون: Redaelli, S, Conconi, D, Villa, N, Sala, E, Crosti, F, Corti, C, Catusi, I, Garzo, M, Romitti, L, Martinoli, E, Patrizi, A, Malgara, R, Recalcati, M, Dalpra, L, Lavitrano, M, Riva, P, Roversi, G, Bentivegna, A, Redaelli S., Conconi D., Villa N., Sala E., Crosti F., Corti C., Catusi I., Garzo M., Romitti L., Martinoli E., Patrizi A., Malgara R., Recalcati M. P., Dalpra L., Lavitrano M., Riva P., Roversi G., Bentivegna A.
مصطلحات الفهرس: Acrocentric chromosome, Array CGH, Chromosome analysi, Cytogenomic instability, Satellited non-acrocentric chromosome, Satellited non-acrocentric chromosomes, info:eu-repo/semantics/article
URL:
http://hdl.handle.net/10281/277073
info:eu-repo/semantics/altIdentifier/pmid/32413994
info:eu-repo/semantics/altIdentifier/wos/WOS:000539312100027
volume:21
issue:10
journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES -
5Academic Journal
المؤلفون: Catusi I., Recalcati M. P., Bestetti I., Garzo M., Valtorta C., Alfonsi M., Alghisi A., Cappellani S., Casalone R., Caselli R., Ceccarini C., Ceglia C., Ciaschini A. M., Coviello D., Crosti F., D'Aprile A., Fabretto A., Genesio R., Giagnacovo M., Granata P., Longo I., Malacarne M., Marseglia G., Montaldi A., Nardone A. M., Palka C., Pecile V., Pessina C., Postorivo D., Redaelli S., Renieri A., Rigon C., Tiberi F., Tonelli M., Villa N., Zilio A., Zuccarello D., Novelli A., Larizza L., Giardino D.
المساهمون: Catusi, I., Recalcati, M. P., Bestetti, I., Garzo, M., Valtorta, C., Alfonsi, M., Alghisi, A., Cappellani, S., Casalone, R., Caselli, R., Ceccarini, C., Ceglia, C., Ciaschini, A. M., Coviello, D., Crosti, F., D'Aprile, A., Fabretto, A., Genesio, R., Giagnacovo, M., Granata, P., Longo, I., Malacarne, M., Marseglia, G., Montaldi, A., Nardone, A. M., Palka, C., Pecile, V., Pessina, C., Postorivo, D., Redaelli, S., Renieri, A., Rigon, C., Tiberi, F., Tonelli, M., Villa, N., Zilio, A., Zuccarello, D., Novelli, A., Larizza, L., Giardino, D.
مصطلحات موضوعية: Chromosomal microarray analysis (CMA), clinical marker identification, detection rate, pathogenic CNV
Relation: info:eu-repo/semantics/altIdentifier/pmid/31851782; info:eu-repo/semantics/altIdentifier/wos/WOS:000503115500001; volume:8; issue:1; firstpage:e1056; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/11365/1126814; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85076756874
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6Academic Journal
المؤلفون: Redaelli S., Conconi D., Villa N., Sala E., Crosti F., Corti C., Catusi I., Garzo M., Romitti L., Martinoli E., Patrizi A., Malgara R., Recalcati M. P., Dalpra L., Lavitrano M., Riva P., Roversi G., Bentivegna A.
المساهمون: Redaelli, S, Conconi, D, Villa, N, Sala, E, Crosti, F, Corti, C, Catusi, I, Garzo, M, Romitti, L, Martinoli, E, Patrizi, A, Malgara, R, Recalcati, M, Dalpra, L, Lavitrano, M, Riva, P, Roversi, G, Bentivegna, A
مصطلحات موضوعية: Acrocentric chromosome, Array CGH, Chromosome analysi, Cytogenomic instability, Satellited non-acrocentric chromosome, Satellited non-acrocentric chromosomes
Relation: info:eu-repo/semantics/altIdentifier/pmid/32413994; info:eu-repo/semantics/altIdentifier/wos/WOS:000539312100027; volume:21; issue:10; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/10281/277073; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084845245
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7
المؤلفون: Campos, D, Anton, A, Pinero, R, Marco, V, Garcia, H, Garzo, M, Vasquez, C, Manresa P, Lopez F, Suarez, M, Amoros, C, Costa, S, Lopez, C, Jimenez, E, Diaz, R, Blazquez, L, Ruiz, S, Cobo, J, Molla, M, Tarin, F
المصدر: HAEMATOLOGICA-THE HEMATOLOGY JOURNAL
r-FISABIO. Repositorio Institucional de Producción Científica
instname
HAEMATOLOGICA
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO) -
8Academic Journal
المؤلفون: Holló, K, Glant, T T, Garzó, M, Finnegan, A, Mikecz, K, Buzás, E
المصدر: Clinical and Experimental Immunology ; volume 120, issue 1, page 167-173 ; ISSN 1365-2249 0009-9104
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9Academic Journal
المؤلفون: BUZÁS, E I, HOLLÓ, K, RUBLICZKY, L, GARZÓ, M, NYIRKOS, P, GLANT, T T
المصدر: Clinical and Experimental Immunology ; volume 94, issue 2, page 252-260 ; ISSN 0009-9104 1365-2249
مصطلحات موضوعية: Immunology, Immunology and Allergy
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10
المساهمون: Alberto Lucarelli
Relation: info:eu-repo/semantics/altIdentifier/isbn/9788849553833; numberofpages:288; alleditors:A. Lucarelli, E. Garzo, M. Militerni; https://hdl.handle.net/11588/952330
الاتاحة: https://hdl.handle.net/11588/952330
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11
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12
المؤلفون: Buzas, E. I., Brennan, F. R., Mikecz, K., Garzo, M., Gabriela Negroiu, Hollo, K., Cs-Szabo, G., Pintye, E., Glant, T. T.
المصدر: Scopus-Elsevier
Europe PubMed Centralمصطلحات موضوعية: Extracellular Matrix Proteins, Mice, Inbred BALB C, Hybridomas, Arthritis, T-Lymphocytes, Immunology, Immunization, Passive, Immunophenotyping, Major Histocompatibility Complex, Epitopes, Mice, Immunology and Allergy, Animals, Female, Lectins, C-Type, Proteoglycans, Aggrecans
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13Primary Source
المؤلفون: Mendez, Ambrocio, Castillo, Eugene, Cadena, Fred M., Johnson, Walter, Rodriguez, Apolinar S., Diaz, Pete, Guzman, Josi, Ramirez, Raymond, Luna, Lalo, Garzo, M. R., Rivas, Leon, Garcia, Bonnie, Aguilar, Victor, Rico, Raymond, Aguirre, Inez M., Marcus, Mike
المصدر: Alonso S. Perales Collection: Law Practice: Cases & Contracts, c. 1918-1960; Cases W-Z, p419-421, 3p
مصطلحات موضوعية: LETTERS
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14Periodical
المؤلفون: Hollo´, K., Buza´s, E.I., Garzo´, M., Glant, T.
المصدر: Immunology Letters; 1997, Vol. 56 Issue: 1 p478-478, 1p
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15
المؤلفون: Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Serena Redaelli, Marta Massimello, Silvia Beatrice Maitz, Mattia Gentile, Emanuela Ponzi, Paola Orsini, Anna Zilio, Annamaria Montaldi, Annapaola Calò, Anna Paola Capra, Silvana Briuglia, Maria Angela La Rosa, Lucia Grillo, Corrado Romano, Sebastiano Bianca, Michela Malacarne, Martina Busè, Maria Piccione, Lidia Larizza
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.
المصدر: Genes; Volume 13; Issue 5; Pages: 780
مصطلحات موضوعية: dysmorphisms, Comparative Genomic Hybridization, 12q21 deletion, genetic counseling, copy number variants (CNVs), DNA Copy Number Variations, congenital anomalies, array-CGH, variation intolerant genes, loss of function, developmental delay/intellectual disability (DD/ID), patient management, 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, Chromosome Structures, Intellectual Disability, Genetics, Humans, Chromosome Deletion, Genetics (clinical)
وصف الملف: application/pdf