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Nils Krone

Showing results (41-50 of 94) with videos related to

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The Journal of Clinical Endocrinology and Metabolism|September 2, 2011
A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1)Silvia Parajes, Clemens Kamrath, Ian T Rose, et al.
European Journal of Endocrinology|September 13, 2012
Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)Silvia Parajes, Angel O K Chan, W M But, et al.
Journal of the Endocrine Society|March 20, 2023
Factors Associated With Response to Growth Hormone in Pediatric Growth Disorders: Results of a 5-year Registry AnalysisJudith Ross, Moshe Fridman, Nicky Kelepouris, et al.
The Journal of Clinical Endocrinology and Metabolism|March 10, 2005
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 geneNils Krone, Felix G Riepe, Dorothea Götze, et al.
Clinical Endocrinology|June 13, 2008
Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channelFelix G Riepe, Miguel X P van Bemmelen, Francois Cachat, et al.
Endocrinology|May 15, 2013
Redefining the initiation and maintenance of zebrafish interrenal steroidogenesis by characterizing the key enzyme cyp11a2Silvia Parajes, Aliesha Griffin, Angela E Taylor, et al.
Human Mutation|April 16, 2005
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiencyEsther M Maier, Bernhard Liebl, Wulf Röschinger, et al.
Human Mutation|December 6, 2008
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression systemCaroline Bleicken, Lourdes Loidi, Vivek Dhir, et al.
Ebiomedicine|September 30, 2018
Glucocorticoid deficiency causes transcriptional and post-transcriptional reprogramming of glutamine metabolismMeltem Weger, Benjamin D Weger, Benjamin Görling, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|June 20, 2014
46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 geneMona Ellaithi, Ralf Werner, Felix G Riepe, et al.
Pageof 10

Showing results (41-50 of 94) with videos related to

Sort By:
Pageof 10
The Journal of Clinical Endocrinology and Metabolism|September 2, 2011
A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1)Silvia Parajes, Clemens Kamrath, Ian T Rose, et al.
European Journal of Endocrinology|September 13, 2012
Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)Silvia Parajes, Angel O K Chan, W M But, et al.
Journal of the Endocrine Society|March 20, 2023
Factors Associated With Response to Growth Hormone in Pediatric Growth Disorders: Results of a 5-year Registry AnalysisJudith Ross, Moshe Fridman, Nicky Kelepouris, et al.
The Journal of Clinical Endocrinology and Metabolism|March 10, 2005
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 geneNils Krone, Felix G Riepe, Dorothea Götze, et al.
Clinical Endocrinology|June 13, 2008
Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channelFelix G Riepe, Miguel X P van Bemmelen, Francois Cachat, et al.
Endocrinology|May 15, 2013
Redefining the initiation and maintenance of zebrafish interrenal steroidogenesis by characterizing the key enzyme cyp11a2Silvia Parajes, Aliesha Griffin, Angela E Taylor, et al.
Human Mutation|April 16, 2005
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiencyEsther M Maier, Bernhard Liebl, Wulf Röschinger, et al.
Human Mutation|December 6, 2008
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression systemCaroline Bleicken, Lourdes Loidi, Vivek Dhir, et al.
Ebiomedicine|September 30, 2018
Glucocorticoid deficiency causes transcriptional and post-transcriptional reprogramming of glutamine metabolismMeltem Weger, Benjamin D Weger, Benjamin Görling, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|June 20, 2014
46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 geneMona Ellaithi, Ralf Werner, Felix G Riepe, et al.
Pageof 10