Søgeresultater - Nordenskjöld, Agneta
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Increased Risk of Autoimmune Disorders in 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study af Falhammar, Henrik, Frisén, Louise, Hirschberg, Angelica Linden, Nordenskjöld, Agneta, Almqvist, Catarina, Nordenström, Anna
Udgivet 2019Text -
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Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study af Falhammar, Henrik, Frisén, Louise, Hirschberg, Angelica Lindén, Nordenskjöld, Agneta, Almqvist, Catarina, Nordenström, Anna
Udgivet 2021Text -
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Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations af Winberg, Johanna, Gustavsson, Peter, Sahlin, Ellika, Larsson, Magnus, Ehrén, Henrik, Fossum, Magdalena, Wester, Tomas, Nordgren, Ann, Nordenskjöld, Agneta
Udgivet 2019Text -
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Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort af Arkani, Samara, Cao, Jia, Lundin, Johanna, Nilsson, Daniel, Källman, Thomas, Barker, Gillian, Holmdahl, Gundela, Clementsson Kockum, Christina, Matsson, Hans, Nordenskjöld, Agneta
Udgivet 2018Text -
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Critical evaluation of the Hirschsprung-associated enterocolitis (HAEC) score: A multicenter study of 116 children with Hirschsprung disease af Frykman, Philip K., Kim, Sungjin, Wester, Tomas, Nordenskjöld, Agneta, Kawaguchi, Akemi, Hui, Thomas T., Teitelbaum, Daniel H., Granström, Anna L., Rogatko, Andre
Udgivet 2017Text -
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Current models of care for disorders of sex development – results from an International survey of specialist centres af Kyriakou, Andreas, Dessens, Arianne, Bryce, Jillian, Iotova, Violeta, Juul, Anders, Krawczynski, Maciej, Nordenskjöld, Agneta, Rozas, Marta, Sanders, Caroline, Hiort, Olaf, Ahmed, S. Faisal
Udgivet 2016Text -
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Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association af Winberg, Johanna, Gustavsson, Peter, Papadogiannakis, Nikos, Sahlin, Ellika, Bradley, Frideborg, Nordenskjöld, Edvard, Svensson, Pär-Johan, Annerén, Göran, Iwarsson, Erik, Nordgren, Ann, Nordenskjöld, Agneta
Udgivet 2014Text -
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A Novel 13 Base Pair Insertion in the Sonic Hedgehog ZRS Limb Enhancer (LMBR1) Causes Preaxial Polydactyly with Triphalangeal Thumb af Laurell, Tobias, VanderMeer, Julia E, Wenger, Aaron M., Grigelioniene, Giedre, Nordenskjöld, Agneta, Arner, Marianne, Ekblom, Anna Gerber, Bejerano, Gill, Ahituv, Nadav, Nordgren, Ann
Udgivet 2012Text -
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Early Genital Surgery in Disorders/Differences of Sex Development: Patients’ Perspectives af Bennecke, Elena, Bernstein, Stephanie, Lee, Peter, van de Grift, Tim C., Nordenskjöld, Agneta, Rapp, Marion, Simmonds, Margaret, Streuli, Jürg C., Thyen, Ute, Wiesemann, Claudia
Udgivet 2021Text -
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Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation af Salehi Karlslätt, Karin, Pettersson, Maria, Jäntti, Nina, Szafranski, Przemyslaw, Wester, Tomas, Husberg, Britt, Ullberg, Ulla, Stankiewicz, Pawel, Nordgren, Ann, Lundin, Johanna, Lindstrand, Anna, Nordenskjöld, Agneta
Udgivet 2019Text