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1دورية أكاديمية
المؤلفون: Linhares, Natália Duarte, Freire, Maíra Cristina Menezes, Cardenas, Raony Guimarães Corrêa do Carmo Lisboa, Pena, Heloisa Barbosa, Lachlan, Katherine, Dallapiccola, Bruno, Bacino, Carlos, Delobel, Bruno, James, Paul, Thuresson, Ann-Charlotte, Annerén, Göran, Pena, Sérgio D. J.
المصدر: Genetics and Molecular Biology. September 2016 39(3)
مصطلحات موضوعية: 1p13.2 deletion, Noonan syndrome type 6, NRAS gene, RASopathy, unmasking heterozygosity
وصف الملف: text/html
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المؤلفون: Johansson, Josefin, Lidéus, Sarah, Frykholm, Carina, Gunnarsson, Cecilia, Mihalič, Filip, Gudmundsson, Sanna, 1989, Ekvall, Sara, 1982, Molin, Anna-Maja, Pham, Mai, Vihinen, Mauno, Lagerstedt-Robinson, Kristina, Nordgren, Ann, Jemth, Per, Ameur, Adam, Annerén, Göran, Wilbe, Maria, Bondeson, Marie-Louise
المصدر: European Journal of Human Genetics. 32
مصطلحات موضوعية: Gustavson syndrome, Illumina, 10X Genomics, RNA processing, X-chromosome inactivation, SH3 domains, Medicinsk genetik, Medical Genetics
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-477472Test
https://uu.diva-portal.org/smash/get/diva2:1671532/FULLTEXT01.pdfTest -
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المؤلفون: Johansson, Josefin, Lidéus, Sarah, Frykholm, Carina, Gunnarsson, Cecilia, Mihalic, Filip, Gudmundsson, Sanna, Ekvall, Sara, Molin, Anna Maja, Pham, Mai, Vihinen, Mauno, Lagerstedt-Robinson, Kristina, Nordgren, Ann, Jemth, Per, Ameur, Adam, Annerén, Göran, Wilbe, Maria, Bondeson, Marie Louise
المصدر: European Journal of Human Genetics.
مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics
الوصول الحر: https://lup.lub.lu.se/record/8b5e6a1f-fb4b-43e5-bb3f-7f4e36f54f98Test
http://dx.doi.org/10.1038/s41431-023-01392-yTest -
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المؤلفون: Johansson, Josefin, Lidéus, Sarah, Höijer, Ida, Ameur, Adam, Gudmundsson, Sanna, 1989, Annerén, Göran, 1945, Bondeson, Marie-Louise, 1960, Wilbe, Maria
المصدر: Scientific Reports. 13
مصطلحات موضوعية: X-chromosome inactivation, Cas9 enrichment, Amplification-free, Androgen receptor, HUMARA, X-linked retinitis pigmentosa 2, Oxford Nanopore Technologies, Medicinsk genetik, Medical Genetics
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-477464Test
https://doi.org/10.1038/s41598-023-34413-3Test
https://uu.diva-portal.org/smash/get/diva2:1671498/FULLTEXT01.pdfTest -
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المؤلفون: Sobol, Maria, Klar, Joakim, Laan, Loora, Shahsavani, Mansoureh, Schuster, Jens, Annerén, Göran, Konzer, Anne, Mi, Jia, Bergquist, Jonas, Nordlund, Jessica, Hoeber, Jan, Huss, Mikael, Falk, Anna, Dahl, Niklas
المصدر: Molecular Neurobiology. 56(10):7113-7127
مصطلحات موضوعية: Down syndrome, Induced pluripotent stem cells (iPSC), Neural differentiation, RNA sequencing, Proteome profiling
وصف الملف: print
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-175029Test
https://doi.org/10.1007/s12035-019-1585-3Test -
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المؤلفون: Wester Oxelgren, Ulrika, Westerlund, Joakim, Myrelid, Åsa, Annerén, Göran, Johansson, Lotta, Åberg, Marie, Gustafsson, Jan, Fernell, Elisabeth
المصدر: Neuropsychiatric Disease and Treatment. 15:2049-2056
مصطلحات موضوعية: Down syndrome, intellectual disability, autism, psychoeducational intervention, Psychology, psykologi
وصف الملف: print
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-172086Test
https://doi.org/10.2147/NDT.S205721Test -
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المؤلفون: Frisk, Sofia, Taylan, Fulya, Blaszczyk, Izabela, Nennesmo, Inger, Annerén, Göran, 1945, Herm, Bettina, Stattin, Evalena, Zachariadis, Vasilios, Lindstrand, Anna, Tesi, Bianca, Laurell, Tobias, Nordgren, Ann
المصدر: Clinical Genetics. 96(2):118-125
مصطلحات موضوعية: accessory, cell fate, ectopic, muscle hypertrophy, muscular hypertrophy, PIK3CA, PROS
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-390499Test
https://doi.org/10.1111/cge.13543Test
https://uu.diva-portal.org/smash/get/diva2:1341983/FULLTEXT01.pdfTest -
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المؤلفون: Wilbe, Maria, Gudmundsson, Sanna, Johansson, Josefin, Ameur, Adam, Stattin, Eva-Lena, Annerén, Göran, 1945, Malmgren, Helena, Frykholm, Carina, Bondeson, Marie-Louise, 1960
المصدر: Prenatal Diagnosis. 37(11):1146-1154
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-342916Test
https://doi.org/10.1002/pd.5156Test
https://uu.diva-portal.org/smash/get/diva2:1185825/FULLTEXT01.pdfTest -
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المؤلفون: Laan, Loora, Klar, Joakim, 1974, Sobol, Maria, Hoeber, Jan, 1986, Shahsavan, Mansoureh, Kele, Malin, Fatima, Ambrin, Zakaria, Muhammad, Annerén, Göran, 1945, Falk, Anna, Schuster, Jens, Assistant Professor, 1972, Dahl, Niklas
المصدر: Clinical Epigenetics. 12
مصطلحات موضوعية: Down syndrome, induced pluripotent stem cells, DNA-methylation, neurogenesis, transcription factors, gene expression
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-398619Test
https://doi.org/10.1186/s13148-019-0803-1Test
https://uu.diva-portal.org/smash/get/diva2:1376148/FULLTEXT01.pdfTest -
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المؤلفون: Schuster, Jens, Assistant Professor, 1972, Hoeber, Jan, 1986, Sobol, Maria, Fatima, Ambrin, Annerén, Göran, 1945, Dahl, Niklas
المصدر: Stem Cell Research. 49
مصطلحات موضوعية: Cell Biology, Biotechnology & Applied Microbiology
وصف الملف: print
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-428382Test
https://doi.org/10.1016/j.scr.2020.102081Test