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N Krone

Showing results (1-10 of 22) with videos related to

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Human Mutation|August 14, 1999
A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. OnlineN Krone, A Braun, A A Roscher, et al.
Clinical Chemistry|October 7, 1998
Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiencyN Krone, A A Roscher, H P Schwarz, et al.
Journal of Molecular Medicine (Berlin, Germany)|November 3, 2001
CYP21 mutations in simple virilizing congenital adrenal hyperplasiaS Lajić, T Robins, N Krone, et al.
The Journal of Clinical Endocrinology and Metabolism|March 17, 2000
Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern GermanyN Krone, A Braun, A A Roscher, et al.
Clinical Endocrinology|October 27, 2001
Mothers with congenital adrenal hyperplasia and their children: outcome of pregnancy, birth and childhoodN Krone, I Wachter, M Stefanidou, et al.
Academic Emergency Medicine : Official Journal of the Society for Academic Emergency Medicine|December 16, 2011
Emergency department overcrowding and inpatient boarding: a statewide glimpse in timeBrent M Felton, Earl J Reisdorff, Christopher N Krone, et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association|June 29, 2006
Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literatureC-J Partsch, F G Riepe, N Krone, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|January 30, 2003
Chromatographic system for the simultaneous measurement of plasma 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone by radioimmunoassay: reference data for neonates and infants and its application in aldosterone-synthase deficiencyF G Riepe, N Krone, M Peter, et al.
Klinische Padiatrie|August 22, 2008
Extreme hyponatremia in an infant with congenital adrenal hypoplasia due to a novel NR0B1 (DAX-1) mutationA Holzinger, F G Riepe, N Krone, et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association|April 26, 2006
Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiencyN Krone, F G Riepe, C-J Partsch, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Human Mutation|August 14, 1999
A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. OnlineN Krone, A Braun, A A Roscher, et al.
Clinical Chemistry|October 7, 1998
Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiencyN Krone, A A Roscher, H P Schwarz, et al.
Journal of Molecular Medicine (Berlin, Germany)|November 3, 2001
CYP21 mutations in simple virilizing congenital adrenal hyperplasiaS Lajić, T Robins, N Krone, et al.
The Journal of Clinical Endocrinology and Metabolism|March 17, 2000
Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern GermanyN Krone, A Braun, A A Roscher, et al.
Clinical Endocrinology|October 27, 2001
Mothers with congenital adrenal hyperplasia and their children: outcome of pregnancy, birth and childhoodN Krone, I Wachter, M Stefanidou, et al.
Academic Emergency Medicine : Official Journal of the Society for Academic Emergency Medicine|December 16, 2011
Emergency department overcrowding and inpatient boarding: a statewide glimpse in timeBrent M Felton, Earl J Reisdorff, Christopher N Krone, et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association|June 29, 2006
Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literatureC-J Partsch, F G Riepe, N Krone, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|January 30, 2003
Chromatographic system for the simultaneous measurement of plasma 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone by radioimmunoassay: reference data for neonates and infants and its application in aldosterone-synthase deficiencyF G Riepe, N Krone, M Peter, et al.
Klinische Padiatrie|August 22, 2008
Extreme hyponatremia in an infant with congenital adrenal hypoplasia due to a novel NR0B1 (DAX-1) mutationA Holzinger, F G Riepe, N Krone, et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association|April 26, 2006
Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiencyN Krone, F G Riepe, C-J Partsch, et al.
Pageof 3