未登录 分享 收藏
分享 收藏
分享 收藏
分享 收藏
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder Kvarnung, Malin; Pettersson, Maria; Chun-on, Pattra; Rafati, Maryam; Mcreynolds, Lisa J.; Norberg, Anna; Moura, Pedro Luis; Pesonen, Ida; Chaireti, Roza; Soderholm, Boa Gronros; Burlin, Julia; Ryden, Jenny; Lindberg, Eva Hellstroem; Giri, Neelam; Savage, Sharon A.; Agarwal, Suneet; Nordgren, Ann; Tesi, Bianca 分享 收藏
分享 收藏
分享 收藏
A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies Aranda-Guillen, Maribel; Royrvik, Ellen Christine; Fletcher-Sandersjoo, Sara; Artaza, Haydee; Botusan, Ileana Ruxandra; Grytaas, Marianne A.; Hallgren, Asa; Breivik, Lars; Pettersson, Maria; Jorgensen, Anders P.; Lindstrand, Anna; Vogt, Elinor; Husebye, Eystein S.; Kampe, Olle; Wolff, Anette S. Boe; Bensing, Sophie; Johansson, Stefan; Eriksson, Daniel 分享 收藏
分享 收藏
分享 收藏
A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy Vaz, Raquel; Wincent, Josephine; Elfissi, Najla; Rosengren Forsblad, Kristina; Pettersson, Maria; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Lindstrand, Anna; Ygberg, Sofia 分享 收藏
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability 基因组测序是诊断智障人士的敏感的一线测试 Lindstrand, Anna; Ek, Marlene; Kvarnung, Malin; Anderlid, Britt-Marie; Bjoerck, Erik; Carlsten, Jonas; Eisfeldt, Jesper; Grigelioniene, Giedre; Gustavsson, Peter; Hammarsjoe, Anna; Helgadottir, Hafdis T.; Hellstroem-Pigg, Maritta; Kuchinskaya, Ekaterina; Lagerstedt-Robinson, Kristina; Levin, Lars-Ake; Lieden, Agne; Lindeloef, Hillevi; Malmgren, Helena; Nilsson, Daniel; Svensson, Eva; Paucar, Martin; Sahlin, Ellika; Tesi, Bianca; Tham, Emma; Winberg, Johanna; Winerdal, Max; Wincent, Josephine; Soller, Maria Johansson; Pettersson, Maria; Nordgren, Ann 分享 收藏
分享 收藏
分享 收藏
Cytogenetically visible inversions are formed by multiple molecular mechanisms 细胞遗传学上可见的倒置是由多种分子机制形成的 Pettersson, Maria; Grochowski, Christopher M.; Wincent, Josephine; Eisfeldt, Jesper; Breman, Amy M.; Cheung, Sau W.; Krepischi, Ana C. V.; Rosenberg, Carla; Lupski, James R.; Ottosson, Jesper; Lovmar, Lovisa; Gacic, Jelena; Lundberg, Elisabeth S.; Nilsson, Daniel; Carvalho, Claudia M. B.; Lindstrand, Anna 分享 收藏
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability 从细胞遗传学到细胞基因组学: 全基因组测序作为一线测试全面捕捉导致智力障碍的各种致病遗传变异 Lindstrand, Anna; Eisfeldt, Jesper; Pettersson, Maria; Carvalho, Claudia M. B.; Kvarnung, Malin; Grigelioniene, Giedre; Anderlid, Britt-Marie; Bjerin, Olof; Gustavsson, Peter; Hammarsjo, Anna; Georgii-Hemming, Patrik; Iwarsson, Erik; Johansson-Soller, Maria; Lagerstedt-Robinson, Kristina; Lieden, Agne; Magnusson, Mans; Martin, Marcel; Malmgren, Helena; Nordenskjold, Magnus; Norling, Ameli; Sahlin, Ellika; Stranneheim, Henrik; Tham, Emma; Wincent, Josephine; Ygberg, Sofia; Wedell, Anna; Wirta, Valtteri; Nordgren, Ann; Lundin, Johanna; Nilsson, Daniel 分享 收藏
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements Eisfeldt, Jesper; Pettersson, Maria; Vezzi, Francesco; Wincent, Josephine; Kaeller, Max; Gruselius, Joel; Nilsson, Daniel; Lundberg, Elisabeth Syk; Carvalho, Claudia M. B.; Lindstrand, Anna 分享 收藏
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization Nazaryan-Petersen, Lusine; Eisfeldt, Jesper; Pettersson, Maria; Lundin, Johanna; Nilsson, Daniel; Wincent, Josephine; Lieden, Agne; Lovmar, Lovisa; Ottosson, Jesper; Gacic, Jelena; Makitie, Outi; Nordgren, Ann; Vezzi, Francesco; Wirta, Valtteri; Kaller, Max; Hjortshoj, Tina Duelund; Jespersgaard, Cathrine; Houssari, Rayan; Pignata, Laura; Bak, Mads; Tommerup, Niels; Lundberg, Elisabeth Syk; Tumer, Zeynep; Lindstrand, Anna 分享 收藏
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias Pettersson, Maria; Vaz, Raquel; Hammarsjo, Anna; Eisfeldt, Jesper; Carvalho, Claudia M. B.; Hofmeister, Wolfgang; Tham, Emma; Horemuzova, Eva; Voss, Ulrika; Nishimura, Gen; Klintberg, Bo; Nordgren, Ann; Nilsson, Daniel; Grigelioniene, Giedre; Lindstrand, Anna 分享 收藏
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility Costantini, Alice; Skarp, Sini; Kampe, Anders; Makitie, Riikka E.; Pettersson, Maria; Mannikko, Minna; Jiao, Hong; Taylan, Fulya; Lindstrand, Anna; Makitie, Outi 分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
