-
1دورية أكاديمية
المؤلفون: Zhao, Y.J., Diacou, A., Johnston, H.R., Musfee, F.I., McDonald-McGinn, D.M., McGinn, D., Crowley, T.B., Repetto, G.M., Swillen, A., Breckpot, J., Vermeesch, J.R., Kates, W.R., Digilio, M.C., Unolt, M., Marino, B., Pontillo, M., Armando, M., Di Fabio, F., Vicari, S., van den Bree, M., Moss, H., Owen, M.J., Murphy, K.C., Murphy, C.M., Murphy, D., Schoch, K., Shashi, V., Tassone, F., Simon, T.J., Shprintzen, R.J., Campbell, L., Philip, N., Heine-Suner, D., Garcia-Minaur, S., Fernandez, L., Bearden, C.E., Vingerhoets, C., van Amelsvoort, T., Eliez, S., Schneider, M., Vorstman, J.A.S., Gothelf, D., Zackai, E., Agopian, A.J., Gur, R.E., Bassett, A.S., Emanuel, B.S., Goldmuntz, E., Mitchell, L.E., Wang, T.
المصدر: Zhao , Y J , Diacou , A , Johnston , H R , Musfee , F I , McDonald-McGinn , D M , McGinn , D , Crowley , T B , Repetto , G M , Swillen , A , Breckpot , J , Vermeesch , J R , Kates , W R , Digilio , M C , Unolt , M , Marino , B , Pontillo , M , Armando , M , Di Fabio , F , Vicari , S , van den Bree , M , Moss , H , Owen , M ....
مصطلحات موضوعية: association, cardio-facial syndrome, crkl, ii deficiency, low-copy repeats, molecular definition, prediction, prevalence, tbx1 haploinsufficiency, variants
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.11.010Test
https://cris.maastrichtuniversity.nl/en/publications/fcebc151-7a92-4dbe-8f36-bd15cb7462bbTest -
2دورية أكاديمية
المؤلفون: Lopez Rivera, Esther, Liu, Yangfan P, Verbitsky, Miguel, Anderson, Blair R, Capone, Valentina P, Otto, Edgar A, Yan, Zhonghai, MITROTTI, ADELE, Martino, Jeremiah, Steers, Nicholas J, Fasel, David A, Vukojevic, Katarina, Deng, Rong, Racedo, Silvia E, Liu, Qingxue, Werth, Max, Westland, Rik, Vivante, Asaf, Makar, Gabriel S, Bodria, Monica, Sampson, Matthew G, Gillies, Christopher E, Vega Warner, Virginia, Maiorana, Mariarosa, Petrey, Donald S, Honig, Barry, Lozanovski, Vladimir J, Salomon, Rémi, Heidet, Laurence, Carpentier, Wassila, Gaillard, Dominique, Carrea, Alba, GESUALDO, Loreto, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A. E, Arapovic, Adela, Saraga Babic, Mirna, Saraga, Marijan, Kunac, Nenad, Samii, Ali, McDonald McGinn, Donna M, Crowley, Terrence B, Zackai, Elaine H, Drozdz, Dorota, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Szczepanska, Maria, Mizerska Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Darlow, John M, Puri, Prem, Barton, David, Casolari, Emilio, Furth, Susan L, Warady, Bradley A, Gucev, Zoran, Hakonarson, Hakon, Flogelova, Hana, Tasic, Velibor, Latos Bielenska, Anna, Materna Kiryluk, Anna, Allegri, Landino, Wong, Craig S, Drummond, Iain A, D'Agati, Vivette, Imamoto, Akira, Barasch, Jonathan M, Hildebrandt, Friedhelm, Kiryluk, Krzysztof, Lifton, Richard P, Morrow, Bernice E, Jeanpierre, Cecile, Papaioannou, Virginia E, Ghiggeri, Gian Marco, Gharavi, Ali G, Katsanis, Nicholas, Sanna Cherchi, Simone
المساهمون: Lopez Rivera, Esther, Liu, Yangfan P, Verbitsky, Miguel, Anderson, Blair R, Capone, Valentina P, Otto, Edgar A, Yan, Zhonghai, Mitrotti, Adele, Martino, Jeremiah, Steers, Nicholas J, Fasel, David A, Vukojevic, Katarina, Deng, Rong, Racedo, Silvia E, Liu, Qingxue, Werth, Max, Westland, Rik, Vivante, Asaf, Makar, Gabriel S, Bodria, Monica, Sampson, Matthew G, Gillies, Christopher E, Vega Warner, Virginia, Maiorana, Mariarosa, Petrey, Donald S, Honig, Barry, Lozanovski, Vladimir J, Salomon, Rémi, Heidet, Laurence, Carpentier, Wassila, Gaillard, Dominique, Carrea, Alba, Gesualdo, Loreto, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A. E, Arapovic, Adela, Saraga Babic, Mirna, Saraga, Marijan, Kunac, Nenad, Samii, Ali, McDonald McGinn, Donna M, Crowley, Terrence B, Zackai, Elaine H, Drozdz, Dorota, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Szczepanska, Maria, Mizerska Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Darlow, John M, Puri, Prem, Barton, David, Casolari, Emilio, Furth, Susan L, Warady, Bradley A, Gucev, Zoran, Hakonarson, Hakon, Flogelova, Hana, Tasic, Velibor, Latos Bielenska, Anna, Materna Kiryluk, Anna, Allegri, Landino, Wong, Craig S, Drummond, Iain A, D'Agati, Vivette, Imamoto, Akira, Barasch, Jonathan M, Hildebrandt, Friedhelm, Kiryluk, Krzysztof, Lifton, Richard P, Morrow, Bernice E, Jeanpierre, Cecile, Papaioannou, Virginia E, Ghiggeri, Gian Marco, Gharavi, Ali G, Katsanis, Nichola, Sanna Cherchi, Simone
مصطلحات موضوعية: 22Q11.2 DELETION SYNDROME, LOW COPY REPEATS, TBX1 HAPLOINSUFFICIENCY, MICE LACKING, MUTATIONS, DISORDERS, MOUSE, CRKL, MALFORMATIONS, MORPHOGENESIS
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28121514; info:eu-repo/semantics/altIdentifier/wos/WOS:000395627900007; volume:376; issue:8; firstpage:742; lastpage:754; numberofpages:13; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11586/181070Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85012836815
-
3دورية أكاديمية
المؤلفون: Xu, Yue-Juan, Chen, Sun, Zhang, Jian, Fang, Shao-Hai, Guo, Qian-Qian, Wang, Jian, Fu, Qi-Hua, Li, Fen, Xu, Rang, Sun, Kun
-
4
المؤلفون: Claudia Ornstein, Anne S. Bassett, Matthew S. Hestand, Bruno Marino, Kelly Schoch, Tony J. Simon, Therese van Amelsvoort, Doron Gothelf, Carrie E. Bearden, Elemi J. Breetvelt, Michael P. Epstein, Tiffany Busa, Robert J. Shprintzen, David Cutler, Tao Wang, Leila Kushan-Wells, Donna M. McDonald-McGinn, Raquel E. Gur, Hayley Moss, Esther D. A. van Duin, B Dallapiccola, Joris Vermeesch, Clodagh M. Murphy, Yingjie Zhao, Rens Evers, María Angeles de la Fuente Sanches, Ann Swillen, H. Richard Johnston, Maria Pontillo, Steve Warren, Guido Lattanzi, Michael E. Zwick, Jacob A. S. Vorstman, Jeroen Breckpot, Oanh Tran, Stylianos E. Antonarakis, Stefano Vicari, Andrea Jin, Alexander Diacou, Miri Carmel, Christian R. Marshall, Abraham Weizman, Bernice E. Morrow, Fadi I Musfee, Wendy R. Kates, Michael John Owen, Fabio Di Fabio, Marco Armando, Erik Boot, Claudia Vingerhoets, Elizabeth Goldmuntz, Massimo Biondi, Kieran C. Murphy, Nancy Butcher, Declan G. Murphy, Candice K. Silversides, Isabelle Cleynen, T. Blaine Crowley, Vandana Shashi, Linda E. Campbell, Elaine H. Zackai, Ronnie Weinberger, Sixto García-Miñaur, Marianne Bernadette van den Bree, Fernando García Algas, Damian Heine-Suñer, Tracy Heung, Daniel E. McGinn, Maude Schneider, Stephan Eliez, Marta Unolt, Stephen R. Hooper, Kathryn McCabe, A. J. Agopian, Tingwei Guo, Zhengdong Zhang, Rosemarie Fritsch, Luis Fernández, Beverly S. Emanuel, Elfi Vergaelen, Alejandra Laorden-Nieto, Flora Tassone, Gabriela M. Repetto, Laura E. Mitchell, Antonino Buzzanca, Elena Michaelovsky, M. Cristina Digilio, Nicole Philip
المساهمون: RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), Antonarakis, Stylianos
المصدر: American Journal of Human Genetics, 106(1), 26-40. Cell Press
Am J Hum Genet
American Journal of Human Genetics, Vol. 106, No 1 (2020) pp. 26-40
American journal of human genetics, vol 106, iss 1مصطلحات موضوعية: Male, Heart disease, PREDICTION, Chromosomes, Human, Pair 22, Haploinsufficiency, Cardiovascular, Medical and Health Sciences, Genetic modifier, Proto-Oncogene Mas, Linkage Disequilibrium, Cohort Studies, Congenital, ddc:616.89, Segmental Duplications, Genomic, DiGeorge syndrome, 2.1 Biological and endogenous factors, Chromosome 22q11.2 deletion syndrome, Copy-number variation, Aetiology, Genetics (clinical), Heart Defects, Pediatric, Genetics & Heredity, Genetics, cardio-facial syndrome, II DEFICIENCY, 0303 health sciences, variants, MOLECULAR DEFINITION, 030305 genetics & heredity, TBX1, Single Nucleotide, Biological Sciences, Segmental Duplications, Complex trait, Heart Disease, Phenotype, Female, tbx1 haploinsufficiency, Chromosome Deletion, Human, Heart Defects, Congenital, prevalence, Biology, Polymorphism, Single Nucleotide, Chromosomes, Article, 03 medical and health sciences, Complete sequence, Clinical Research, LOW-COPY REPEATS, medicine, Humans, Polymorphism, Allele, Conotruncal heart defects, International 22q11.2 Brain and Behavior Consortium, 030304 developmental biology, Sequence (medicine), Congenital heart disease, Copy number variation, Human Genome, association, CRKL, medicine.disease, chromosome 22q11.2 deletion syndrome, complex trait, congenital heart disease, conotruncal heart defects, copy number variation, genetic association, genetic modifier, haploinsufficiency, Case-Control Studies, Genome-Wide Association Study, Genomic, Genetic association, Pair 22
وصف الملف: application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8700304c185800fa1b2e56de201d2874Test
https://cris.maastrichtuniversity.nl/en/publications/fcebc151-7a92-4dbe-8f36-bd15cb7462bbTest -
5
المؤلفون: Jian Zhang, Kun Sun, Qianqian Guo, Yuejuan Xu, Qi-Hua Fu, Jian Wang, Fen Li, Sun Chen, Shaohai Fang, Rang Xu
المصدر: BMC Medical Genetics
مصطلحات موضوعية: Heart Defects, Congenital, Male, TBX1, 22q11.2 deletion, medicine.medical_specialty, Protein Conformation, Mutation, Missense, Molecular Dynamics Simulation, Biology, Protein Structure, Secondary, Transactivation, Asian People, stomatognathic system, Chlorocebus aethiops, DiGeorge Syndrome, medicine, Genetics, Animals, Humans, Missense mutation, Genetics(clinical), Gene, Phylogeny, Conotruncal heart defects, Genetics (clinical), Adaptor Proteins, Signal Transducing, TBX1 haploinsufficiency, Cytogenetics, Nuclear Proteins, DNA, Exons, Sequence Analysis, DNA, Human genetics, CRKL, HEK293 Cells, Case-Control Studies, COS Cells, embryonic structures, Female, T-Box Domain Proteins, Haploinsufficiency, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ffb8a16960e2522f48be6e5f6020282Test