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

URL الوصول: https://escholarship.org/uc/item/7rq0h7dd

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

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

المؤلفون: Kjærgaard, Susanne.

المساهمون: Københavns universitet.

مصطلحات موضوعية: Genetic disorders in children., Glycosylation., Glycoproteins -- Metabolism -- Disorders.

Degree: Thesis (doctoral)--Københavns Universitet.

المؤلفون: Castberg, Filip Christian, Kjaergaard, Susanne, Mosig, Rebecca A., Lobl, Mollie, Martignetti, Chiara, Martignetti, John A., Myrup, Charlotte, Zak, Marek

المصدر: European Journal of Pediatrics. December 2013 172(12):1657-1663

المؤلفون: Hansen, Thomas v. O., Jønson, Lars, Steffensen, Ane Y., Andersen, Mette K., Kjaergaard, Susanne, Gerdes, Anne-Marie, Ejlertsen, Bent, Nielsen, Finn C.

المصدر: Familial Cancer. June 2011 10(2):207-212

المؤلفون: Lou, Stina, Petersen, Olav B., Jørgensen, Finn Stener, Lund, Ida C.B., Kjærgaard, Susanne, Vogel, Ida, Fagerberg, Christina, Svaneby, Dea, Bache, Iben, Hansen, Jan Frederik

المصدر: Lou, S, Petersen, O B, Jørgensen, F S, Lund, I C B, Kjærgaard, S, Vogel, I, Fagerberg, C, Svaneby, D, Bache, I, Hansen, J F & Danish Cytogenetic Central Registry Study Group 2018, ' National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973–2016 in Denmark ', Acta Obstetricia et Gynecologica Scandinavica, vol. 97, no. 2, pp. 195-203 . https://doi.org/10.1111/aogs.13273

مصطلحات موضوعية: Male, Down syndrome, medicine.medical_specialty, chorionic villus sampling, down syndrome, diagnosis, Denmark, Chorionic villus sampling, combined first trimester screening, Ultrasonography, Prenatal, Danish, 03 medical and health sciences, 0302 clinical medicine, Prenatal Diagnosis, medicine, Humans, Mass Screening, 030212 general & internal medicine, Medical diagnosis, Screening procedures, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, business.industry, Obstetrics, Triple test, Infant, Newborn, Obstetrics and Gynecology, Prenatal screening, General Medicine, medicine.disease, language.human_language, language, Amniocentesis, amniocentesis, Female, Down Syndrome, business, Nuchal Translucency Measurement, Maternal Age

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b021508f76b0e2c026fdd03cd394826
https://pubmed.ncbi.nlm.nih.gov/29194566

المؤلفون: Miltoft, Caroline Borregaard, Wulff, Camilla B, Kjærgaard, Susanne, Ekelund, Charlotte K., Tabor, Ann, Zingenberg, Helle, Jørgensen, Finn Stener, Shalmi, Anne-Cathrine, Thagaard, Ida Näslund, Skibsted, Lillian, Hessellund, Anette, Sperling, Lene Søndergaard, Mogensen, Helle, Ibsen, Mette, Brendstrup, Lene, Petersen, Olav Bjørn, Jensen, Hanne Søndergaard, Vase, Laura, Østergaard, Marianne, Kamper, Christina H., Sørensen, Anne, Størup, Birgitte

المصدر: Miltoft, C B, Wulff, C B, Kjærgaard, S, Ekelund, C K, Tabor, A, Zingenberg, H, Jørgensen, F S, Shalmi, A-C, Thagaard, I N, Skibsted, L, Hessellund, A, Sperling, L S, Mogensen, H, Ibsen, M, Brendstrup, L, Petersen, O B, Jensen, H S, Vase, L, Østergaard, M, Kamper, C H, Sørensen, A, Størup, B & the Danish Fetal Medicine Study Group 2017, ' Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening ', Fetal Diagnosis and Therapy, vol. 41, no. 3, pp. 209-214 . https://doi.org/10.1159/000448093

مصطلحات موضوعية: Adult, Parents, First trimester, Embryology, medicine.medical_specialty, Down syndrome, Trisomy 21, Referral, Denmark, Population, Decision Making, Prenatal diagnosis, Pregnancy termination, Pregnancy outcome, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Diagnosis, medicine, Humans, Radiology, Nuclear Medicine and imaging, 030212 general & internal medicine, Registries, education, education.field_of_study, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics, Chromosomal abnormalities, Obstetrics and Gynecology, Prenatal screening, General Medicine, medicine.disease, Pregnancy Trimester, First, Population Surveillance, Pediatrics, Perinatology and Child Health, Screening, Female, Down Syndrome, Trisomy, business, Risk assessment, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd88ff0032bdac9b96c001791fe288fc
https://pure.au.dk/portal/da/publications/parental-decisions-about-prenatal-screening-and-diagnosis-among-infants-with-trisomy-21-in-a-national-cohort-with-high-uptake-of-combined-firsttrimester-screening(e9f8ed91-a94d-43ef-b124-523e28b46d6d).html

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, Christeen Ramane, Pedurupillay Jesuthasan, Strømme, 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., Kjærgaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zoë, 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, 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 Christeen Ramane, Pedurupillay Jesuthasan Strømme, 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. Kjærgaard, Susanne Tørring, Pernille M. Brasch-Andersen, Charlotte Ronan, Anne van Haeringen, Arie Anderson, Peter J. Powis, Zoë 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. . YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction. American Jo
American Jo

الإتاحة: http://hdl.handle.net/10852/63294
https://www.duo.uio.no/bitstream/handle/10852/63294/1/YY1haploinsufficiency%2Bsyndrome.pdf

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