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European Journal of Endocrinology|December 6, 2012
Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasiaHenrik Falhammar, Helena Filipsson Nyström, Anna Wedell, et al.International Journal of Molecular Sciences|June 1, 2019
MCEE Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic AcidMattias Andréasson, Rolf H Zetterström, Ulrika von Döbeln, et al.Journal of Molecular Medicine (Berlin, Germany)|November 23, 2006
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasiaTiina Robins, Christine Bellanne-Chantelot, Michela Barbaro, et al.The Journal of Clinical Endocrinology and Metabolism|May 17, 2007
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 geneMichela Barbaro, Mikael Oscarson, Jacqueline Schoumans, et al.Lakartidningen|May 11, 2021
[The utility of whole genome sequencing in rare disease diagnostics]Maria Johansson Soller, Ann Nordgren, Hans Ehrencrona, et al.European Journal of Endocrinology|December 14, 2011
Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasiaHenrik Falhammar, Helena Filipsson Nyström, Urban Ekström, et al.European Journal of Medical Genetics|September 24, 2013
Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platformAmeli Norling, Angelica Lindén Hirschberg, Erik Iwarsson, et al.Molecular Genetics & Genomic Medicine|March 26, 2023
Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathiesOlivia J Henry, Tommy Stödberg, Sofia Båtelson, et al.Lakartidningen|February 3, 2016
[Hereditary metabolic diseases with onset in adulthood. Early and correct treatment of acute symptoms can be life-saving]Mikael Oscarson, Daphne Vassiliou, Anna Nordenström, et al.Nucleic Acids Research|July 9, 2015
SUV3 helicase is required for correct processing of mitochondrial transcriptsPaula Clemente, Aleksandra Pajak, Isabelle Laine, et al.Pageof 11