المؤلفون: M, Cesana, L, Vaccaro, M J, Larsen, M, Kibæk, L, Micale, S, Riccardo, P, Annunziata, C, Colantuono, L, Di Filippo, D, De Brasi, M, Castori, C, Fagerberg, F, Acquaviva, D, Cacchiarelli

المصدر: Human genetics.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b4f5583eca75ed501c8ef036d75896ca
https://pubmed.ncbi.nlm.nih.gov/36469137

المؤلفون: M. Cesana, L. Vaccaro, M. J. Larsen, M. Kibæk, L. Micale, S. Riccardo, P. Annunziata, C. Colantuono, L. Di Filippo, D. De Brasi, M. Castori, C. Fagerberg, F. Acquaviva, D. Cacchiarelli

المساهمون: Cesana, M, Vaccaro, L, Larsen, M J, Kibæk, M, Micale, L, Riccardo, S, Annunziata, P, Colantuono, C, Di Filippo, L, De Brasi, D, Castori, M, Fagerberg, C, Acquaviva, F, Cacchiarelli, D

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a98e6f079547c6b6edbc072ef53ef72c
https://hdl.handle.net/11588/904586

المؤلفون: M. C. Gil Rodríguez, M. A. Deardorff, M. Ansari, C. A. Tan, C. Baquero Montoya, L. B. Ousager, B. Puisac, M. Hernández Marcos, M. E. Teresa Rodrigo, I. Marcos Alcalde, J. Wesselink, S. Lusa Bernal, E. K. Bijlsma, D. Braunholz, I. Bueno Martinez, D. Clark, N. S. Cooper, C. J. Curry, R. Fisher, A. Fryer, J. Ganesh, G. Gillessen Kaesbach, Y. Guo, H. Hakonarson, R. J. Hopkin, M. Kaur, B. J. Keating, M. Kibaek, E. Kinning, T. Kleefstra, A. D. Kline, E. Kuchinskaya, Y. R. Li, X. Liu, M. Mariani, J. D. Picker, Á. Pié, J. Pozojevic, E. Queralt, J. Richer, E. Roeder, A. Sinha, R. H. Scott, J. So, K. A. Wusik, L. Wilson, J. Zhang, P. Gómez Puertas, C. H. Casale, L. Ström, A. Selicorni, F. J. Ramos, L. G. Jackson, I. D. Krantz, S. Das, R. C. M. Hennekam, F. J. Kaiser, D. R. Fitzpatrick, J. Pié, I. Parenti, C. Gervasini, L. Larizza

المساهمون: M.C. Gil-Rodríguez, M.A. Deardorff, M. Ansari, C.A. Tan, I. Parenti, C. Baquero-Montoya, L.B. Ousager, B. Puisac, M. Hernández-Marco, M.E. Teresa-Rodrigo, I. Marcos-Alcalde, J. Wesselink, S. Lusa-Bernal, E.K. Bijlsma, D. Braunholz, I. Bueno-Martinez, D. Clark, N.S. Cooper, C.J. Curry, R. Fisher, A. Fryer, J. Ganesh, C. Gervasini, G. Gillessen-Kaesbach, Y. Guo, H. Hakonarson, R.J. Hopkin, M. Kaur, B.J. Keating, M. Kibaek, E. Kinning, T. Kleefstra, A.D. Kline, E. Kuchinskaya, L. Larizza, Y.R. Li, X. Liu, M. Mariani, J.D. Picker, Á. Pié, J. Pozojevic, E. Queralt, J. Richer, E. Roeder, A. Sinha, R.H. Scott, J. So, K.A. Wusik, L. Wilson, J. Zhang, P. Gómez-Puerta, C.H. Casale, L. Ström, A. Selicorni, F.J. Ramo, L.G. Jackson, I.D. Krantz, S. Da, R.C.M. Hennekam, F.J. Kaiser, D.R. Fitzpatrick, J. Pié

مصطلحات موضوعية: CdLS, CdLS-like, CdLS-overlapping phenotype, Cohesin complex, Cornelia de Lange syndrome, SMC3, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/25655089; info:eu-repo/semantics/altIdentifier/wos/WOS:000352304200010; volume:36; issue:4; firstpage:454; lastpage:462; numberofpages:9; journal:HUMAN MUTATION; http://hdl.handle.net/2434/264673; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84925845145

الاتاحة: http://hdl.handle.net/2434/264673
https://doi.org/10.1002/humu.22761

المؤلفون: C. ZWEIER, C. T. THIEL, A. DUFKE, Y. J. CROW, P. MEINECKE, M. SURI, S. ALA MELLO, F. BEEMER, P. BIANCHI, A. BIER, K. DEVRIENDT, B. DIMITROV, H. FIRTH, R. C. GALLAGHER, L. GARAVELLI, G. GILLESSEN KAESBACH, L. HUDGINS, H. KAARIAINEN, S. KARSTENS, I. KRANTZ, A. MANNHARDT, L. MEDNE, J. MUCKE, M. KIBAEK, L. NYLANDSTED KROGH, M. PEIPPO, O. RITTINGER, S. SCHULZ, S. L. SCHELLEY, I. KAREN TEMPLE, N. RDENNIS, M. S. VAN DER KNAPP, P. WHEELER, B. YERUSHALMI, M. ZENKER, H. SEIDEL, A. LACHMEIJER, T. PRESCOTT, C. KRAUS, R. BRIAN LOWRY, A. RAUCH, BERNASCONI, Sergio

المساهمون: C., Zweier, C. T., Thiel, A., Dufke, Y. J., Crow, P., Meinecke, M., Suri, S., ALA MELLO, F., Beemer, Bernasconi, Sergio, P., Bianchi, A., Bier, K., Devriendt, B., Dimitrov, H., Firth, R. C., Gallagher, L., Garavelli, G., GILLESSEN KAESBACH, L., Hudgin, H., Kaariainen, S., Karsten, I., Krantz, A., Mannhardt, L., Medne, J., Mucke, M., Kibaek, L., NYLANDSTED KROGH, M., Peippo, O., Rittinger, S., Schulz, S. L., Schelley, I., KAREN TEMPLE, N., Rdenni, M. S., VAN DER KNAPP, P., Wheeler, B., Yerushalmi, M., Zenker, H., Seidel, A., Lachmeijer, T., Prescott, C., Krau, R., BRIAN LOWRY, A., Rauch

Relation: volume:48; firstpage:97; lastpage:111; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11381/1443987

الاتاحة: http://hdl.handle.net/11381/1443987

المؤلفون: J Buchholt, P Uldall, J Alving, M Kibæk, L K Hansen

المصدر: Archives of Disease in Childhood. 91:219-221

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Referral, business.industry, Retrospective cohort study, medicine.disease, Epilepsy, El Niño, Epilepsy in children, Pediatrics, Perinatology and Child Health, medicine, Psychogenic disease, Observational study, Differential diagnosis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6e5a9cc50ee692c662d690be10f63009
https://doi.org/10.1136/adc.2004.064477

المؤلفون: P Uldall, J Alving, L K Hansen, M Kibæk, J Buchholt

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://adc.bmj.com/content/91/3/219.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.584.4229; http://adc.bmj.com/content/91/3/219.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.584.4229
http://adc.bmj.com/content/91/3/219.full.pdf

المؤلفون: M, Kibaek

المصدر: Ugeskrift for laeger. 156(4)

مصطلحات موضوعية: Purpura, Thrombocytopenic, Platelet Count, Cytomegalovirus Infections, Humans, Immunoglobulins, Infant, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::96c7df2d87fa212cc7e9ee02885e4546
https://pubmed.ncbi.nlm.nih.gov/8140668

المؤلفون: M, Kibaek, B B, Jacobsen

المصدر: Ugeskrift for laeger. 153(45)

مصطلحات موضوعية: Male, Adolescent, Karyotyping, Disorders of Sex Development, Humans, Syndrome, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e475e8e228c26e89f1d045b0a38b8ba0
https://pubmed.ncbi.nlm.nih.gov/1957358