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1Academic Journal
المؤلفون: Roversi, Gaia, Colombo, Elisa Adele, Magnani, Ivana, Gervasini, Cristina, Maggiore, Giuseppe, Paradisi, Mauro, Larizza, Lidia
المصدر: Genetics and Molecular Biology. January 2021 44(3)
مصطلحات موضوعية: POIKTMP, FAM111B pathogenic variants, chromosomal instability, cancer predisposition, pancreatic carcinoma
وصف الملف: text/html
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2Academic JournalCharacterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies
المؤلفون: Di Fede, Elisabetta, Lettieri, Antonella, Taci, Esi, Castiglioni, Silvia, Rebellato, Stefano, Parodi, Chiara, Colombo, Elisa Adele, Grazioli, Paolo, Natacci, Federica, Marchisio, Paola, Pezzani, Lidia, Fazio, Grazia, Milani, Donatella, Massa, Valentina, Gervasini, Cristina
المساهمون: E. Di Fede, A. Lettieri, E. Taci, S. Castiglioni, S. Rebellato, C. Parodi, E.A. Colombo, P. Grazioli, F. Natacci, P. Marchisio, L. Pezzani, G. Fazio, D. Milani, V. Massa, C. Gervasini
مصطلحات موضوعية: Settore MED/03 - Genetica Medica, Settore BIO/13 - Biologia Applicata
Relation: info:eu-repo/semantics/altIdentifier/pmid/38753158; info:eu-repo/semantics/altIdentifier/wos/WOS:001226727900001; firstpage:1; lastpage:13; numberofpages:13; journal:HUMAN GENETICS; https://hdl.handle.net/2434/1051070; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85193480415
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3Academic Journal
المؤلفون: Castiglioni, Silvia, Pezzoli, Laura, Pezzani, Lidia, Lettieri, Antonella, Di Fede, Elisabetta, Cereda, Anna, Ancona, Silvia, Gallina, Andrea, Colombo, Elisa Adele, Parodi, Chiara, Grazioli, Paolo, Taci, Esi, Milani, Donatella, Iascone, Maria, Massa, Valentina, Gervasini, Cristina
المصدر: Orphanet Journal of Rare Diseases; 12/20/2024, Vol. 19 Issue 1, p1-9, 9p
مصطلحات موضوعية: UNFOLDED protein response, LIFE sciences, PHOSPHOPROTEIN phosphatases, CYTOLOGY, CENTRAL nervous system
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4Academic Journal
المؤلفون: Peron, Angela, Alfano, Rosa Maria, Moore, Barry, Nellist, Mark, Pedersen, Brent, La Briola, Francesca, Spaccini, Luigina, Natacci, Federica, Recalcati, Maria Paola, Chiesa, Valentina, Arancio, Rosangela, Cavallari, Ugo, Vannicola, Chiara, Cefalo, Graziella, Maitz, Silvia, Bigoni, Stefania, Gualandri, Lorenzo, Gervasini, Cristina, Veggiotti, Pierangelo, van Ijcken, Wilfred, Vignoli, Aglaia, Bulfamante, Gaetano Pietro, Carey, John, Canevini, Maria Paola
المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100295 ; ISSN 2949-7744
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5Academic Journal
المؤلفون: Foroutan, Aidin, Haghshenas, Sadegheh, Bhai, Pratibha, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Niceta, Marcello, Ciolfi, Andrea, Pedace, Lucia, Miele, Evelina, Genevieve, David, Heide, Solveig, Alders, Mariëlle, Zampino, Giuseppe, Merla, Giuseppe, Fradin, Mélanie, Bieth, Eric, Bonneau, Dominique, Dieterich, Klaus, Fergelot, Patricia, Schaefer, Elise, Faivre, Laurence, Vitobello, Antonio, Maitz, Silvia, Fischetto, Rita, Gervasini, Cristina, Piccione, Maria, van de Laar, Ingrid, Tartaglia, Marco, Sadikovic, Bekim, Lebre, Anne Sophie
المصدر: Foroutan , A , Haghshenas , S , Bhai , P , Levy , M A , Kerkhof , J , McConkey , H , Niceta , M , Ciolfi , A , Pedace , L , Miele , E , Genevieve , D , Heide , S , Alders , M , Zampino , G , Merla , G , Fradin , M , Bieth , E , Bonneau , D , Dieterich , K , Fergelot , P , Schaefer , E , Faivre , L , Vitobello , A , Maitz , S , Fischetto , ....
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/4d65ada1-523a-40e1-a9ec-882809fc43a8
https://doi.org/10.3390/ijms23031815
https://pure.eur.nl/ws/files/50329103/Clinical_Utility_of_a_Unique_Genome_Wide_DNA_Methylation_Signature_for_KMT2A_Related_Syndrome.pdf
http://www.scopus.com/inward/record.url?scp=85123938038&partnerID=8YFLogxK -
6Academic Journal
المؤلفون: Castiglioni, Silvia, Di Fede, Elisabetta, Bernardelli, Clara, Lettieri, Antonella, Parodi, Chiara, Grazioli, Paolo, Colombo, Elisa Adele, Ancona, Silvia, Milani, Donatella, Ottaviano, Emerenziana, Borghi, Elisa, Massa, Valentina, Ghelma, Filippo, Vignoli, Aglaia, Lesma, Elena, Gervasini, Cristina
المساهمون: S. Castiglioni, E. Di Fede, C. Bernardelli, A. Lettieri, C. Parodi, P. Grazioli, E.A. Colombo, S. Ancona, D. Milani, E. Ottaviano, E. Borghi, V. Massa, F. Ghelma, A. Vignoli, E. Lesma, C. Gervasini
مصطلحات موضوعية: KMT2A, chromatinopathie, tumor, epigenetics, Settore MED/03 - Genetica Medica, Settore BIO/14 - Farmacologia
Relation: info:eu-repo/semantics/altIdentifier/pmid/35328068; info:eu-repo/semantics/altIdentifier/wos/WOS:000775350800001; volume:13; issue:3; firstpage:1; lastpage:15; numberofpages:15; journal:GENES; http://hdl.handle.net/2434/917014; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127023176
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7Academic Journal
المؤلفون: Levy, Michael A, McConkey, Haley, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomares, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R, Elting, Mariet W, Faivre, Laurence, Fee, Timothy, Fletcher, Robin S, Cherik, Florian, Foroutan, Aidin, Friez, Michael J, Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A, Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J, Maitz, Silvia, Milani, Donatella, Morgan, Angela T, Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Pizzi, Simone, Plomp, Astrid S, Poulton, Cathryn, Reilly, Jack, Relator, Raissa, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W E, Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, St John, Miya, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J, Vergano, Samantha A, Vos, Niels, Walden, Kellie K, Azmanov, Dimitar, Balci, Tugce, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A, Mannens, Marcel M A M, Roscioli, Tony, Siu, Victoria, Amor, David J, Baynam, Gareth, Bend, Eric G, Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A, Fleming, Mark D, Genevieve, David, Kerrnohan, Kristin D, McNeill, Alisdair, Menke, Leonie A, Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A, Stevenson, Roger E, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L, Sadikovic, Bekim
المساهمون: M.A. Levy, H. Mcconkey, J. Kerkhof, M. Barat-Houari, S. Bargiacchi, E. Biamino, M.P. Bralo, G. Cappuccio, A. Ciolfi, A. Clarke, B.R. Dupont, M.W. Elting, L. Faivre, T. Fee, R.S. Fletcher, F. Cherik, A. Foroutan, M.J. Friez, C. Gervasini, S. Haghshena, B.A. Hilton, Z. Jenkin, S. Kaur, S. Lewi, R.J. Louie, S. Maitz, D. Milani, A.T. Morgan, R. Oegema, E. Østergaard, N.R. Pallare, M. Piccione, S. Pizzi, A.S. Plomp, C. Poulton, J. Reilly, R. Relator, R. Riu, S. Robertson, K. Rooney, J. Rousseau, G.W.E. Santen, F. Santos-Simarro, J. Schijn, G.M. Squeo, M. St John, C. Thauvin-Robinet, G. Traficante, P.J. van der Sluij, S.A. Vergano, N. Vo, K.K. Walden, D. Azmanov, T. Balci, S. Banka, J. Gecz, P. Henneman, J.A. Lee, M.M.A.M. Mannen, T. Roscioli, V. Siu, D.J. Amor, G. Baynam, E.G. Bend, K. Boycott, N. Brunetti-Pierri, P.M. Campeau, J. Christodoulou, D. Dyment, N. Esber, J.A. Fahrner, M.D. Fleming, D. Genevieve, K.D. Kerrnohan, A. Mcneill, L.A. Menke, G. Merla, P. Prontera, C. Rockman-Greenberg, C. Schwartz, S.A. Skinner, R.E. Stevenson, A. Vitobello, M. Tartaglia, M. Alder, M.L. Tedder, B. Sadikovic
مصطلحات موضوعية: Clinical diagnostic, DNA methylation, Epigenetic, Episignature, Neurodevelopmental disorder, Settore MED/03 - Genetica Medica
Relation: info:eu-repo/semantics/altIdentifier/pmid/35047860; info:eu-repo/semantics/altIdentifier/wos/WOS:000787652900021; volume:3; issue:1; firstpage:1; lastpage:18; numberofpages:18; journal:HGG ADVANCES; http://hdl.handle.net/2434/912301; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128406827
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8Academic Journal
المؤلفون: Saettini, Francesco, Fazio, Grazia, Bonati, Maria Teresa, Moratto, Daniele, Massa, Valentina, Di Fede, Elisabetta, Castiglioni, Silvia, Marchetti, Daniela, Chiarini, Marco, Sottini, Alessandra, Iascone, Maria, Cazzaniga, Giovanni, Imberti, Luisa, Biondi, Andrea, Gervasini, Cristina, Badolato, Raffaele
المساهمون: F. Saettini, G. Fazio, M.T. Bonati, D. Moratto, V. Massa, E. Di Fede, S. Castiglioni, D. Marchetti, M. Chiarini, A. Sottini, M. Iascone, G. Cazzaniga, L. Imberti, A. Biondi, C. Gervasini, R. Badolato
مصطلحات موضوعية: CREBBP, EP300, inborn errors of immunity, Rubinstein–Taybi syndrome, syndromic immunodeficiency, Settore MED/03 - Genetica Medica
Relation: info:eu-repo/semantics/altIdentifier/pmid/35266289; info:eu-repo/semantics/altIdentifier/wos/WOS:000766384600001; volume:188; issue:7; firstpage:2129; lastpage:2134; numberofpages:6; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/2434/915652; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85125947521
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9Academic Journal
المؤلفون: Di Fede, Elisabetta, Grazioli, Paolo, Lettieri, Antonella, Parodi, Chiara, Castiglioni, Silvia, Taci, Esi, Colombo, Elisa Adele, Ancona, Silvia, Priori, Alberto, Gervasini, Cristina, Massa, Valentina
المساهمون: E. Di Fede, P. Grazioli, A. Lettieri, C. Parodi, S. Castiglioni, E. Taci, E.A. Colombo, S. Ancona, A. Priori, C. Gervasini, V. Massa
مصطلحات موضوعية: Danio rerio, animal model, chromatinopathie, drosophila melanogaster, mus musculu, rare diseases, Settore MED/03 - Genetica Medica, Settore BIO/13 - Biologia Applicata, Settore MED/26 - Neurologia
Relation: info:eu-repo/semantics/altIdentifier/pmid/36225316; info:eu-repo/semantics/altIdentifier/wos/WOS:000875381900001; volume:10; firstpage:1; lastpage:12; numberofpages:12; journal:FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY; https://hdl.handle.net/2434/949678; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85139531815
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10Academic Journal
المؤلفون: Rinaldi, Berardo, Ge, Yu Han, Freri, Elena, Tucci, Arianna, Granata, Tiziana, Estienne, Margherita, Sun, Jia Hun, Gérard, Bénédicte, Bayat, Allan, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun Stone, Houlden, Henry, Marchisio, Paola, Milani, Donatella
المصدر: Rinaldi , B , Ge , Y H , Freri , E , Tucci , A , Granata , T , Estienne , M , Sun , J H , Gérard , B , Bayat , A , Efthymiou , S , Gervasini , C , Shi , Y S , Houlden , H , Marchisio , P & Milani , D 2022 , ' Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene ' , Neurogenetics , vol. 23 , pp. 27-35 . https://doi.org/10.1007/s10048-021-00666-1
مصطلحات موضوعية: AMPARs, Cerebellar hypoplasia, Glutamate, GRIA3, Myoclonic status epilepticus
وصف الملف: application/pdf
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11Academic Journal
المؤلفون: Rinaldi, Berardo, Ge, Yu Han, Freri, Elena, Tucci, Arianna, Granata, Tiziana, Estienne, Margherita, Sun, Jia Hui, Gérard, Bénédicte, Bayat, Allan, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun Stone, Houlden, Henry, Marchisio, Paola, Milani, Donatella
المصدر: Rinaldi , B , Ge , Y H , Freri , E , Tucci , A , Granata , T , Estienne , M , Sun , J H , Gérard , B , Bayat , A , Efthymiou , S , Gervasini , C , Shi , Y S , Houlden , H , Marchisio , P & Milani , D 2022 , ' Correction to : Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene ' , Neurogenetics , vol. 23 , 81 . https://doi.org/10.1007/s10048-021-00678-x
وصف الملف: application/pdf
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12Academic Journal
المؤلفون: FOROUTAN, Aidin, HAGHSHENAS, Sadegheh, BHAI, Pratibha, LEVY, Michael A, KERKHOF, Jennifer, MCCONKEY, Haley, NICETA, Marcello, CIOLFI, Andrea, PEDACE, Lucia, MIELE, Evelina, GENEVIEVE, David, HEIDE, Solveig, ALDERS, Mariëlle, ZAMPINO, Giuseppe, MERLA, Giuseppe, FRADIN, Mélanie, BIETH, Eric, BONNEAU, Dominique, DIETERICH, Klaus, FERGELOT, Patricia, SCHAEFER, Elise, FAIVRE, Laurence, VITOBELLO, Antonio, MAITZ, Silvia, FISCHETTO, Rita, GERVASINI, Cristina, PICCIONE, Maria, VAN DE LAAR, Ingrid, TARTAGLIA, Marco, SADIKOVIC, Bekim, LEBRE, Anne-Sophie
مصطلحات موضوعية: Epigenetics, DNA methylation, Episignature, Wiedemann–Steiner syndrome, KMT2A gene, Intellectual disability, Neurodevelopmental disorders, Sciences du Vivant [q-bio]/Biologie cellulaire
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13Academic Journal
المؤلفون: Levy, Michael A., Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Palomares Bralo, María, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S., Cherick, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie R., Piccione, Maria, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W.E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella M., John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce B., Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M.A.M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim
المصدر: Levy , M A , Relator , R , McConkey , H , Pranckeviciene , E , Kerkhof , J , Barat-Houari , M , Bargiacchi , S , Biamino , E , Palomares Bralo , M , Cappuccio , G , Ciolfi , A , Clarke , A , DuPont , B R , Elting , M W , Faivre , L , Fee , T , Ferilli , M , Fletcher , R S , Cherick , F , Foroutan , A , Friez , M J , Gervasini , C , Haghshenas , S , Hilton ....
مصطلحات موضوعية: clinical diagnostics, DNA methylation, episignatures, neurodevelopmental syndromes
وصف الملف: application/pdf
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14Academic Journal
المؤلفون: Rovina, Davide, Castiglioni, Elisa, Mallia, Sara, Rabino, Martina, Farini, Andrea, Belicchi, Marzia, Di Giuseppe, Giusy, Gervasini, Cristina, Torrente, Yvan, Pompilio, Giulio, Gowran, Aoife
المصدر: Stem Cell Research ; volume 64, page 102889 ; ISSN 1873-5061
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15Academic Journal
المؤلفون: Avagliano, Laura, Castiglioni, Silvia, Lettieri, Antonella, Parodi, Chiara, Di Fede, Elisabetta, Taci, Esi, Grazioli, Paolo, Colombo, Elisa Adele, Gervasini, Cristina, Massa, Valentina
المصدر: Birth Defects Research; Jul2024, Vol. 116 Issue 7, p1-16, 16p
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16Academic Journal
المؤلفون: Gibellato, Elisabetta, Cianci, Paola, Mariani, Milena, Parma, Barbara, Huisman, Sylvia, Śmigiel, Robert, Bisgaard, Anne‐Marie, Massa, Valentina, Gervasini, Cristina, Moretti, Alex, Cattoni, Alessandro, Biondi, Andrea, Selicorni, Angelo
المصدر: American Journal of Medical Genetics. Part A; Jul2024, Vol. 194 Issue 7, p1-10, 10p
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17Academic Journal
المؤلفون: Latorre-Pellicer, Ana, Gil-Salvador, Marta, Parenti, Ilaria, Lucia-Campos, Cristina, Trujillano, Laura, Marcos-Alcalde, Iñigo, Arnedo, María, Ascaso, Ángela, Ayerza-Casas, Ariadna, Antoñanzas-Pérez, Rebeca, Gervasini, Cristina, Piccione, Maria, Mariani, Milena, Weber, Axel, Kanber, Deniz, Kuechler, Alma, Munteanu, Martin, Khuller, Katharina, Bueno-Lozano, Gloria, Puisac, Beatriz, Gómez-Puertas, Paulino, Selicorni, Angelo, Kaiser, Frank J., Ramos, Feliciano J., Pié, Juan
وصف الملف: application/pdf
Relation: info:eu-repo/grantAgreement/ES/DGA/B32-17R; info:eu-repo/grantAgreement/ES/DGA/B32-20R; info:eu-repo/grantAgreement/ES/FIS/PI19-01860; info:eu-repo/grantAgreement/ES/ISCIII/PI19-01860; http://zaguan.unizar.es/record/117324
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18Academic Journal
المؤلفون: Parodi, Chiara, Di Fede, Elisabetta, Peron, Angela, Viganò, Ilaria, Grazioli, Paolo, Castiglioni, Silvia, Finnell, Richard H., Gervasini, Cristina, Vignoli, Aglaia, Massa, Valentina
المساهمون: C. Parodi, E. Di Fede, A. Peron, I. Viganò, P. Grazioli, S. Castiglioni, R.H. Finnell, C. Gervasini, A. Vignoli, V. Massa
مصطلحات موضوعية: HDAC inhibitor, anti-epileptic drug, chromatinopathie, fetal valproate syndrome, neurodevelopment, Settore BIO/13 - Biologia Applicata, Settore MED/03 - Genetica Medica, Settore MED/39 - Neuropsichiatria Infantile
Relation: info:eu-repo/semantics/altIdentifier/pmid/33959609; info:eu-repo/semantics/altIdentifier/wos/WOS:000646590200001; volume:9; firstpage:1; lastpage:13; numberofpages:13; journal:FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY; http://hdl.handle.net/2434/840735; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105381514
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19Academic Journal
مصطلحات موضوعية: chromatin, development, embryo, epigenetic, molecular mechanisms
وصف الملف: application/pdf
Relation: http://hdl.handle.net/10668/18480; PMC8397521; https://www.frontiersin.org/articles/10.3389/fcell.2021.744665/pdf; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8397521/pdf
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20Academic Journal
المؤلفون: Parenti, Ilaria, Mallozzi, Mark B., Hüning, Irina, Gervasini, Cristina, Kuechler, Alma, Agolini, Emanuele, Albrecht, Beate, Baquero‐Montoya, Carolina, Bohring, Axel, Bramswig, Nuria C., Busche, Andreas, Dalski, Andreas, Guo, Yiran, Hanker, Britta, Hellenbroich, Yorck, Horn, Denise, Innes, A. Micheil, Leoni, Chiara, Li, Yun R., Lynch, Sally Ann, Mariani, Milena, Medne, Livija, Mikat, Barbara, Milani, Donatella, Onesimo, Roberta, Ortiz‐Gonzalez, Xilma, Prott, Eva Christina, Reutter, Heiko, Rossier, Eva, Selicorni, Angelo, Wieacker, Peter, Wilkens, Alisha, Wieczorek, Dagmar, Zackai, Elaine H., Zampino, Giuseppe, Zirn, Birgit, Hakonarson, Hakon, Deardorff, Matthew A., Gillessen‐Kaesbach, Gabriele, Kaiser, Frank J.
المصدر: Clinical Genetics ; volume 100, issue 2, page 187-200 ; ISSN 0009-9163 1399-0004