المؤلفون: Karimi K., Mol M. O., Haghshenas S., Relator R., Levy M. A., Kerkhof J., McConkey H., Brooks A., Zonneveld-Huijssoon E., Gerkes E. H., Tedder M. L., Vissers L., Salzano E., Piccione M., Asaftei S. D., Carli D., Mussa A., Shukarova-Angelovska E., Trajkova S., Brusco A., Merla G., Alders M. M., Bouman A., Sadikovic B.

المساهمون: Karimi K., Mol M.O., Haghshenas S., Relator R., Levy M.A., Kerkhof J., McConkey H., Brooks A., Zonneveld-Huijssoon E., Gerkes E.H., Tedder M.L., Vissers L., Salzano E., Piccione M., Asaftei S.D., Carli D., Mussa A., Shukarova-Angelovska E., Trajkova S., Brusco A., Merla G., Alders M.M., Bouman A., Sadikovic B.

مصطلحات موضوعية: CTCF, DNA methylation, Developmental disorder, Episignature,IDD21

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38054406; volume:26; issue:3; firstpage:101041; numberofpages:14; journal:GENETICS IN MEDICINE; https://hdl.handle.net/10447/623193Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85182571710

الإتاحة: https://doi.org/10.1016/j.gim.2023.101041Test
https://hdl.handle.net/10447/623193Test

المؤلفون: Levy M. A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M. P., Cappuccio G., Ciolfi A., Clarke A., DuPont B. R., Elting M. W., Faivre L., Fee T., Fletcher R. S., Cherik F., Foroutan A., Friez M. J., Gervasini C., Haghshenas S., Hilton B. A., Jenkins Z., Kaur S., Lewis S., Louie R. J., Maitz S., Milani D., Morgan A. T., Oegema R., Østergaard E., Pallares N. R., Piccione M., Pizzi S., Plomp A. S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G. W. E., Santos-Simarro F., Schijns J., Squeo G. M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P. J., Vergano S. A., Vos N., Walden K. K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J. A., Mannens M. M. A. M., Roscioli T., Siu V., Amor D. J., Baynam G., Bend E. G., Boycott K., Brunetti-Pierri N., Campeau P. M., Christodoulou J., Dyment D., Esber N., Fahrner J. A., Fleming M. D., Genevieve D., Kerrnohan K. D., McNeill A., Menke L. A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S. A., Stevenson R. E., Vitobello A., Tartaglia M., Alders M., Tedder M. L., Sadikovic B.

المساهمون: Levy M.A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M.P., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Fletcher R.S., Cherik F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Østergaard E., Pallares N.R., Piccione M., Pizzi S., Plomp A.S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Kerrnohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.

مصطلحات موضوعية: Clinical diagnostics, DNA methylation, Epigenetics, Episignatures, Neurodevelopmental disorders

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35047860; info:eu-repo/semantics/altIdentifier/wos/WOS:000787652900021; volume:3; issue:1; firstpage:100075; numberofpages:18; journal:HGG ADVANCES; https://hdl.handle.net/10447/620282Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128406827

الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
https://hdl.handle.net/10447/620282Test

المؤلفون: 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 B. A., Jenkins Z., Kaur S., Lewis S., Louie R. J., Maitz S., Milani D., Morgan A. T., Oegema R., Ostergaard E., Pallares N. R., Piccione M., Plomp A. S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G. W. E., Santos-Simarro F., Schijns J., Squeo G. M., John M. S., Thauvin-Robinet C., Traficante G., van der Sluijs P. J., Vergano S. A., Vos N., Walden K. K., Azmanov D., Balci T. B., Banka S., Gecz J., Henneman P., Lee J. A., Mannens M. M. A. M., Roscioli T., Siu V., Amor D. J., Baynam G., Bend E. G., Boycott K., Brunetti-Pierri N., Campeau P. M., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J. A., Fleming M. D., Genevieve D., Heron D., Husson T., Kernohan K. D., McNeill A., Menke L. A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S. A., Stevenson R. E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M. L., Sadikovic B.

المساهمون: 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 B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Ostergaard E., Pallares N.R., Piccione M., Plomp A.S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., John M.S., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T.B., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Heron D., Husson T., Kernohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.

مصطلحات موضوعية: DNA methylation, clinical diagnostics, episignatures, neurodevelopmental syndromes

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35904121; info:eu-repo/semantics/altIdentifier/wos/WOS:000842416800001; volume:43; issue:11; firstpage:1609; lastpage:1628; numberofpages:20; journal:HUMAN MUTATION; https://hdl.handle.net/10447/579330Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136511967

الإتاحة: https://doi.org/10.1002/humu.24446Test
https://hdl.handle.net/10447/579330Test

المؤلفون: Rooney K., Levy M. A., Haghshenas S., Kerkhof J., Rogaia D., Tedesco M. G., Imperatore V., Mencarelli A., Squeo G. M., Di Venere E., Di Cara G., Verrotti A., Merla G., Tedder M. L., Dupont B. R., Sadikovic B., Prontera P.

المساهمون: Rooney, K., Levy, M. A., Haghshenas, S., Kerkhof, J., Rogaia, D., Tedesco, M. G., Imperatore, V., Mencarelli, A., Squeo, G. M., Di Venere, E., Di Cara, G., Verrotti, A., Merla, G., Tedder, M. L., Dupont, B. R., Sadikovic, B., Prontera, P.

مصطلحات موضوعية: 22q11.2 deletion, Conotruncalanomaly face syndrome, Diagnostic method, DiGeorge syndrome, DNA methylation, Episignature, Velocardiofacial syndrome

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000689304600001; volume:22; issue:16; firstpage:8611; lastpage:8623; numberofpages:13; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11391/1495841Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85112070950

الإتاحة: https://doi.org/10.3390/ijms22168611Test
http://hdl.handle.net/11391/1495841Test

المؤلفون: Gabriella Maria Squeo, Eleonora Di Venere, Paolo Prontera, Matthew L. Tedder, Sadegheh Haghshenas, Kathleen Rooney, Giuseppe Merla, Daniela Rogaia, Amedea Mencarelli, Jennifer Kerkhof, Michael A. Levy, Bekim Sadikovic, Alberto Verrotti, Maria Giovanna Tedesco, Valentina Imperatore, Giuseppe Di Cara, Barbara R. DuPont

المساهمون: Rooney, K., Levy, M. A., Haghshenas, S., Kerkhof, J., Rogaia, D., Tedesco, M. G., Imperatore, V., Mencarelli, A., Squeo, G. M., Di Venere, E., Di Cara, G., Verrotti, A., Merla, G., Tedder, M. L., Dupont, B. R., Sadikovic, B., Prontera, P.

المصدر: Paediatrics Publications
International Journal of Molecular Sciences
Volume 22
Issue 16
International Journal of Molecular Sciences, Vol 22, Iss 8611, p 8611 (2021)

مصطلحات موضوعية: Male, 22q11.2 deletion, Velocardiofacial syndrome, QH301-705.5, Biology, Article, Catalysis, Inorganic Chemistry, Epigenome, DiGeorge syndrome, Intellectual disability, diagnostic method, medicine, Humans, Biology (General), Physical and Theoretical Chemistry, Episignature, QD1-999, Molecular Biology, Transcription factor, Gene, Spectroscopy, Conotruncalanomaly face syndrome, Genetics, DNA methylation, Organic Chemistry, Infant, General Medicine, Methylation, medicine.disease, Phenotype, Computer Science Applications, Chromatin, episignature, Chemistry, Female, Diagnostic method, Human

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfe0ef59c4c31f9ef8c5535ee7ac4548Test
https://ir.lib.uwo.ca/paedpub/2029Test