Showing results (1-10 of 107) with videos related to
Sort By:
Pageof 11
The Journal of Clinical Endocrinology and Metabolism|October 19, 2006
Gestational age correlates to genotype in girls with CYP21 deficiencySebastian Gidlöf, Anna Wedell, Anna NordenströmEndocrine|September 5, 2015
Biochemical and genetic diagnosis of 21-hydroxylase deficiencyHenrik Falhammar, Anna Wedell, Anna NordenströmHormone Research|May 15, 2007
A case of 3beta-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency picked up by neonatal screening for 21-hydroxylase deficiency: difficulties and delay in etiologic diagnosisAnna Nordenström, Maguelone G Forest, Anna WedellThe Journal of Clinical Endocrinology and Metabolism|December 30, 2004
Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasiaTiina Robins, Michela Barbaro, Svetlana Lajic, et al.Evolution & Development|June 23, 2010
Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatinsJessica Frygelius, Lars Arvestad, Anna Wedell, et al.Molecular Human Reproduction|January 5, 2002
Isolation of the human testatin gene and analysis in patients with abnormal gonadal developmentAnnika Eriksson, Virpi Töhönen, Anna Wedell, et al.International Journal of Endocrinology|April 21, 2012
Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal DysgenesisMichela Barbaro, Jackie Cook, Kristina Lagerstedt-Robinson, et al.Journal of Inherited Metabolic Disease|June 14, 2019
Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variantsAnnika Ohlsson, Mary Hunt, Anna Wedell, et al.European Journal of Endocrinology|November 25, 2010
Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiencyHenrik Falhammar, Helena Filipsson Nyström, Anna Wedell, et al.Pageof 11