المؤلفون: Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N, Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T, Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G, McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M, Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Sacoto, Maria J Guillen, Safina, Nicole P, Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H, Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Shamsi, Aisha Mohamed Al, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J, Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E, Pasquier, Laurent, Küry, Sébastien

المصدر: American Journal of Human Genetics. 102(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Neurosciences, Pediatric, Rare Diseases, Brain Disorders, Autism, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Aged, 80 and over, Alleles, Animals, Autistic Disorder, Brain, Cerebellar Ataxia, Child, Child, Preschool, DNA Copy Number Variations, Disease Models, Animal, Female, Genes, Dominant, Genetic Complementation Test, Humans, Intellectual Disability, Larva, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense, Nuclear Receptor Subfamily 1, Group F, Member 1, Purkinje Cells, Syndrome, Zebrafish, RORA, autistic features, cerebellar ataxia, dual molecular effects, epilepsy, intellectual disability, neurodevelopmental disorder, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7rq0h7ddTest

المؤلفون: Gerdes, Anne-Marie Axö, Risom, Lotte, Kjaergaard, Susanne, Östergaard, Elsebet

المصدر: Ugeskrift for Laeger. 181(7A):701

المؤلفون: Halgren, Christina, Kjaergaard, Susanne, Bak, Mads, Hansen, Claus, El-Schich, Zahra, Anderson, Claire Marie, Henriksen, Karen Friis, Hjalgrim, Helle, Kirchhoff, Maria, Bijlsma, Emilia, Nielsen, Maartje, den Hollander, Nicolette, Ruivenkamp, Claudia, Isidor, Bertrand, Le Caignec, Cédric, Zannolli, Raffaella, Mucciolo, Mafalda, Renieri, Alessandra, Mari, Francesca, Anderlid, Britt-Marie, Andrieux, Joris, Dieux, Anne, Tommerup, Niels, Bache, Iben

المصدر: Clinical Genetics. 82(3):248-255

مصطلحات موضوعية: ARID1B, autism spectrum disorder, chromosome 6q25, corpus callosum, intellectual disability, next-generation mate-pair sequencing, speech impairment, translocation

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:mau:diva-5351Test
https://doi.org/10.1111/j.1399-0004.2011.01755.xTest
https://mau.diva-portal.org/smash/get/diva2:1402206/FULLTEXT01.pdfTest

المؤلفون: Halgren, Christina, Nielsen, Nete M., Nazaryan-Petersen, Lusine, Silahtaroglu, Asli, Collins, Ryan L., Lowther, Chelsea, Kjaergaard, Susanne, Frisch, Morten, Kirchhoff, Maria, Brøndum-Nielsen, Karen, Lind-Thomsen, Allan, Mang, Yuan, El-Schich, Zahra, Boring, Claire A., Mehrjouy, Mana M., Jensen, Peter K.A., Fagerberg, Christina, Krogh, Lotte N., Hansen, Jan, Bryndorf, Thue, Hansen, Claus, Talkowski, Michael E., Bak, Mads, Tommerup, Niels, Bache, Iben

المصدر: Halgren , C , Nielsen , N M , Nazaryan-Petersen , L , Silahtaroglu , A , Collins , R L , Lowther , C , Kjaergaard , S , Frisch , M , Kirchhoff , M , Brøndum-Nielsen , K , Lind-Thomsen , A , Mang , Y , El-Schich , Z , Boring , C A , Mehrjouy , M M , Jensen , P K A , Fagerberg , C , Krogh , L N , Hansen , J , Bryndorf , T , Hansen , C , Talkowski , M E , Bak , M ....

مصطلحات موضوعية: balanced chromosomal rearrangement, clinical recommendations, de novo, inversion, long-term follow-up, mate-pair mapping, morbidity risk, neurodevelopmental/-psychiatric disorders, prenatal diagnosis, reciprocal translocation

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.04.005Test
https://pure.au.dk/portal/da/publications/risks-and-recommendations-in-prenatally-detected-de-novo-balanced-chromosomal-rearrangements-from-assessment-of-longterm-outcomesTest(3ac989e6-79b4-422c-ae3c-b9533476dd29).html
http://www.scopus.com/inward/record.url?scp=85047187634&partnerID=8YFLogxKTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992120/pdf/main.pdfTest

المؤلفون: Lou, Stina, Petersen, Olav B., Jørgensen, Finn S., Lund, Ida C.B., Kjærgaard, Susanne, Vogel, Ida

المساهمون: Novo Nordisk

المصدر: Acta Obstetricia et Gynecologica Scandinavica ; volume 97, issue 2, page 195-203 ; ISSN 0001-6349 1600-0412

الإتاحة: https://doi.org/10.1111/aogs.13273Test

المؤلفون: Gabriele, Michele, Vulto-van Silfhout, Anneke T, Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J, Stromme, Petter, Rosenfeld, Jill A, Shao, Yunru, Craigen, William J, Schaaf, Christian P, Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D, Nugent, Kimberly M, Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A, Kjaergaard, Susanne, Tørring, Pernille M, Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J, Powis, Zöe, Brunner, Han G, Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H M, van Bon, Bregje W M, Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M, Vissers, Lisenka E L M, Gecz, Jozef, Koolen, David A, Testa, Giuseppe, de Vries, Bert B A

المصدر: Gabriele , M , Vulto-van Silfhout , A T , Germain , P-L , Vitriolo , A , Kumar , R , Douglas , E , Haan , E , Kosaki , K , Takenouchi , T , Rauch , A , Steindl , K , Frengen , E , Misceo , D , Pedurupillay , C R J , Stromme , P , Rosenfeld , J A , Shao , Y , Craigen , W J , Schaaf , C P , Rodriguez-Buritica , D , Farach , L , Friedman , J , Thulin , P , ....

مصطلحات موضوعية: Journal Article

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/a83cd22d-4c3c-4c45-9353-0d4bd787e29bTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.05.006Test
https://portal.findresearcher.sdu.dk/da/publications/a83cd22d-4c3c-4c45-9353-0d4bd787e29bTest
https://findresearcher.sdu.dk/ws/files/135420865/YY1_Haploinsufficiency_Causes_an_Intellectual_Disability_Syndrome_Featuring_Transcriptional_and_Chromatin_Dysfunction.pdfTest

المؤلفون: Ekelund, Charlotte, Fagerberg, Christina Ringmann, Kjærgaard, Susanne, Lindstrøm, Maiken, Nørgaard, Lone Nikoline, Skibsted, Lillian, Sperling, Lene, Sundberg, Karin Milner, Tabor, Ann, Vogel, Ida, Petersen, Olav Bjørn

المصدر: Ekelund , C , Fagerberg , C R , Kjærgaard , S , Lindstrøm , M , Nørgaard , L N , Skibsted , L , Sperling , L , Sundberg , K M , Tabor , A , Vogel , I & Petersen , O B 2013 , Prænatal array-CGH (Comparativ Genomisk Hybridisering) . DFMS Guideline .

وصف الملف: application/pdf

العلاقة: https://pure.au.dk/portal/da/publications/praenatal-arraycgh-comparativ-genomisk-hybridiseringTest(379367b1-4711-4a5a-af11-34e7ecfb98c5).html

الإتاحة: https://pure.au.dk/portal/da/publications/praenatal-arraycgh-comparativ-genomisk-hybridiseringTest(379367b1-4711-4a5a-af11-34e7ecfb98c5).html
https://pure.au.dk/ws/files/127931732/2013_DFMS_praenatal_Array_CGH_guideline_endelige.pdfTest

المؤلفون: Bartholdi, Deborah, Stray-Pedersen, Asbjørg, Azzarello-Burri, Silvia, Kibaek, Maria, Kirchhoff, Maria, Oneda, Beatrice, Rødningen, Olaug, Schmitt-Mechelke, Thomas, Rauch, Anita, Kjaergaard, Susanne

المصدر: Bartholdi, Deborah; Stray-Pedersen, Asbjørg; Azzarello-Burri, Silvia; Kibaek, Maria; Kirchhoff, Maria; Oneda, Beatrice; Rødningen, Olaug; Schmitt-Mechelke, Thomas; Rauch, Anita; Kjaergaard, Susanne (2014). A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. American Journal of Medical Genetics. Part A, 164A(5):1277-1283.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics(clinical), Genetics

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/99949/1/Bartholdi%20et%20al,%20A%20newly%20recognized%2013q12.3%20microdeletion.pdfTest; info:pmid/24664804; urn:issn:1552-4825

الإتاحة: https://doi.org/10.5167/uzh-9994910.1002/ajmg.a.36439Test
https://www.zora.uzh.ch/id/eprint/99949Test/
https://www.zora.uzh.ch/id/eprint/99949/1/Bartholdi%20et%20al,%20A%20newly%20recognized%2013q12.3%20microdeletion.pdfTest

المؤلفون: Gregor, Anne, Oti, Martin, Kouwenhoven, Evelyn N., Hoyer, Juliane, Sticht, Heinrich, Ekici, Arif B., Kjaergaard, Susanne, Rauch, Anita, Stunnenberg, Hendrik G., Uebe, Steffen, Vasileiou, Georgia, Reis, André, Zhou, Huiqing, Zweier, Christiane

المصدر: The American Journal of Human Genetics ; volume 93, issue 1, page 124-131 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.05.007Test
https://api.elsevier.com/content/article/PII:S0002929713002206?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929713002206?httpAccept=text/plainTest

المؤلفون: Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman, Susan, Zunich, Janice, Beckmann, Jacques S., Hirschhorn, Joel N., Hastings, Michelle L., Jacquemont, Sebastien, Katsanis, Nicholas

المصدر: The American Journal of Human Genetics ; volume 93, issue 5, page 798-811 ; ISSN 0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.09.010Test
https://api.elsevier.com/content/article/PII:S0002929713004230?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0002929713004230?httpAccept=text/xmlTest