المؤلفون: Van Duyvenvoorde, Hermine A., Lui, Julian C., Kant, Sarina G., Oostdijk, Wilma, Gijsbers, Antoinet C.J., Hoffer, Mariëtte J.V., Karperien, Marcel, Walenkamp, Marie J.E., Noordam, Cees, Voorhoeve, Paul G., Mericq, Verónica, Pereira, Alberto M., Claahsen-Van De Grinten

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: copy number variations (CNV), growth, idiopathic short stature, short stature, single-nucleotide polymorphism (SNP) array, small for gestational age

وصف الملف: application/pdf

العلاقة: European Journal of Human Genetics, Volumen 22, Issue 5, 2018, Pages 602-609; https://repositorio.uchile.cl/handle/2250/166210Test

الإتاحة: https://doi.org/10.1038/ejhg.2013.203Test
https://repositorio.uchile.cl/handle/2250/166210Test

المؤلفون: Wit, Jan M., van Duyvenvoorde, Hermine A., van Klinken, Jan B., Caliebe, Janina, Bosch, Cathy A.J., Lui, Julian C., Gijsbers, Antoinet C.J., Bakker, Egbert, Breuning, Martijn H., Oostdijk, Wilma, Losekoot, Monique, Baron, Jeffrey, Binder, Gerhard, Ranke, Michael B., Ruivenkamp, Claudia A.L.

المصدر: Hormone Research in Paediatrics ; volume 82, issue 5, page 310-318 ; ISSN 1663-2818 1663-2826

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1159/000367712Test
https://www.karger.com/Article/Pdf/367712Test

المؤلفون: van Duyvenvoorde, Hermine A, Lui, Julian C, Kant, Sarina G, Oostdijk, Wilma, Gijsbers, Antoinet CJ, Hoffer, Mariëtte JV, Karperien, Marcel, Walenkamp, Marie JE, Noordam, Cees, Voorhoeve, Paul G, Mericq, Verónica, Pereira, Alberto M, Claahsen-van de Grinten, Hedi L, van Gool, Sandy A, Breuning, Martijn H, Losekoot, Monique, Baron, Jeffrey, Ruivenkamp, Claudia AL, Wit, Jan M

المصدر: European Journal of Human Genetics ; volume 22, issue 5, page 602-609 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2013.203Test
http://www.nature.com/articles/ejhg2013203.pdfTest
http://www.nature.com/articles/ejhg2013203Test

المؤلفون: Santen, Gijs W E, Sun, Yu, Gijsbers, Antoinet C J, Carré, Aurore, Holvoet, Maureen, Haeringen, Arie van, Lesnik Oberstein, Saskia A J, Tomoda, Akemi, Mabe, Hiroyo, Polak, Michel, Devriendt, Koenraad, Ruivenkamp, Claudia A L, Bijlsma, Emilia K

مصطلحات موضوعية: Copy-number variation

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/49/6/366Test; http://dx.doi.org/10.1136/jmedgenet-2011-100721Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2011-100721Test
http://jmg.bmj.com/cgi/content/short/49/6/366Test

المؤلفون: Wentzel, Christian, Rajcan-Separovic, Evica, Ruivenkamp, Claudia, Chantot-Bastaraud, Sandra, Metay, Corinne, Andrieux, Joris, Annerén, Göran, Gijsbers, Antoinet, Druart, Luc, Hyon, Capucine, Portnoi, Marie-France, Stattin, Eva-Lena, Vincent-Delorme, Catherine, Kant, Sarina G, Steinraths, Michelle, Marlin, Sandrine, Giurgea, Irina, Thuresson, Ann Charlotte

المساهمون: Dept of Immunology, Genetics and Pathology, University of British Columbia (UBC), Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Henri Mondor Créteil, Hôpital Jeanne de Flandre Lille, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Umeå University, Sweden, Division of Medical Genetics,Victoria General Hospital, Victoria, BC, Funding agencySavstaholm SocietyBorgstrom FoundationFoundation Jerome LejeuneCanadian Institutes of Health Research (CIHR)Michael Smith Foundation for Health Research

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: 10p deletion, developmental delay, WAC, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21522184; hal-00636187; https://hal.science/hal-00636187Test; https://hal.science/hal-00636187/documentTest; https://hal.science/hal-00636187/file/PEER_stage2_10.1038%252Fejhg.2011.71.pdfTest; PUBMED: 21522184; PUBMEDCENTRAL: PMC3179368; WOS: 000294003100009

الإتاحة: https://doi.org/10.1038/ejhg.2011.71Test
https://hal.science/hal-00636187Test
https://hal.science/hal-00636187/documentTest
https://hal.science/hal-00636187/file/PEER_stage2_10.1038%252Fejhg.2011.71.pdfTest

المؤلفون: Knijnenburg, Jeroen, Lesnik Oberstein, Saskia A J, Frei, Klemens, Lucas, Trevor, Gijsbers, Antoinet C J, Ruivenkamp, Claudia A L, Tanke, Hans J, Szuhai, Karoly

مصطلحات موضوعية: Online mutation reports

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/jmg.2008.063685v1Test; http://dx.doi.org/10.1136/jmg.2008.063685Test

الإتاحة: https://doi.org/10.1136/jmg.2008.063685Test
http://jmg.bmj.com/cgi/content/short/jmg.2008.063685v1Test

المؤلفون: Gijsbers, Antoinet CJ, Lew, Janet YK, Bosch, Cathy AJ, Schuurs-Hoeijmakers, Janneke HM, van Haeringen, Arie, den Hollander, Nicolette S, Kant, Sarina G, Bijlsma, Emilia K, Breuning, Martijn H, Bakker, Egbert, Ruivenkamp, Claudia AL

المصدر: European Journal of Human Genetics ; volume 17, issue 11, page 1394-1402 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2009.74Test
http://www.nature.com/articles/ejhg200974.pdfTest
http://www.nature.com/articles/ejhg200974Test

المؤلفون: Gijsbers, Antoinet C. J., D’haene, Barbara, Hilhorst-Hofstee, Yvonne, Mannens, Marcel, Albrecht, Beate, Seidel, Joerg, Witt, David R., Maisenbacher, Melissa K., Loeys, Bart, van Essen, Ton, Bakker, Egbert, Hennekam, Raoul, Breuning, Martijn H., De Baere, Elfride, Ruivenkamp, Claudia A. L.

المصدر: Human Genetics ; volume 124, issue 5, page 489-498 ; ISSN 0340-6717 1432-1203

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s00439-008-0574-9Test

المؤلفون: Bruder, Carl E.G., Piotrowski, Arkadiusz, Gijsbers, Antoinet A.C.J., Andersson, Robin, Erickson, Stephen, Diaz de Ståhl, Teresita, Menzel, Uwe, Sandgren, Johanna, von Tell, Desiree, Poplawski, Andrzej, Crowley, Michael, Crasto, Chiquito, Partridge, E. Christopher, Tiwari, Hemant, Allison, David B., Komorowski, Jan, van Ommen, Gert-Jan B., Boomsma, Dorret I., Pedersen, Nancy L., den Dunnen, Johan T., Wirdefeldt, Karin, Dumanski, Jan P.

المصدر: The American Journal of Human Genetics ; volume 82, issue 3, page 763-771 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2007.12.011Test
https://api.elsevier.com/content/article/PII:S000292970800102X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292970800102X?httpAccept=text/plainTest

المؤلفون: Moghadasi, Setareh, van Haeringen, Arie, Langendonck, Lieke, Gijsbers, Antoinet C. J., Ruivenkamp, Claudia A. L.

المصدر: American Journal of Medical Genetics Part A ; volume 164, issue 11, page 2863-2868 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.36700Test