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A Wedell

Showing results (31-40 of 54) with videos related to

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Clinical Endocrinology|June 26, 2001
A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertilityY L Giwercman, A Nikoshkov, B Byström, et al.
Diabetologia|January 1, 1993
DNA polymorphisms in the human tyrosine hydroxylase/insulin/insulin-like growth factor II chromosomal region in relation to glucose and insulin responsesM Sten-Linder, A Wedell, L Iselius, et al.
Journal of Immunology (Baltimore, Md. : 1950)|February 11, 1999
A conformation-dependent epitope in Addison's disease and other endocrinological autoimmune diseases maps to a carboxyl-terminal functional domain of human steroid 21-hydroxylaseA Nikoshkov, A Falorni, S Lajic, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|June 10, 2011
Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex developmentM Barbaro, M Cools, L H J Looijenga, et al.
Clinical Genetics|April 4, 2008
Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysisM Barbaro, A Cicognani, A Balsamo, et al.
The Journal of Clinical Endocrinology and Metabolism|November 5, 1997
Prophylactic adrenalectomy of a three-year-old girl with congenital adrenal hyperplasia: pre- and postoperative studiesD F Gunther, T P Bukowski, E M Ritzén, et al.
Human Reproduction (Oxford, England)|June 19, 2014
Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platformA Norling, A L Hirschberg, K A Rodriguez-Wallberg, et al.
The Journal of Biological Chemistry|April 16, 1998
Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stabilityA Nikoshkov, S Lajic, A Vlamis-Gardikas, et al.
Acta Paediatrica (Oslo, Norway : 1992)|August 1, 1995
Early growth is not increased in untreated moderately severe 21-hydroxylase deficiencyA Thilén, K A Woods, L A Perry, et al.
The Journal of Clinical Endocrinology and Metabolism|May 6, 2004
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasiaM Barbaro, S Lajic, L Baldazzi, et al.
Pageof 6

Showing results (31-40 of 54) with videos related to

Sort By:
Pageof 6
Clinical Endocrinology|June 26, 2001
A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertilityY L Giwercman, A Nikoshkov, B Byström, et al.
Diabetologia|January 1, 1993
DNA polymorphisms in the human tyrosine hydroxylase/insulin/insulin-like growth factor II chromosomal region in relation to glucose and insulin responsesM Sten-Linder, A Wedell, L Iselius, et al.
Journal of Immunology (Baltimore, Md. : 1950)|February 11, 1999
A conformation-dependent epitope in Addison's disease and other endocrinological autoimmune diseases maps to a carboxyl-terminal functional domain of human steroid 21-hydroxylaseA Nikoshkov, A Falorni, S Lajic, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|June 10, 2011
Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex developmentM Barbaro, M Cools, L H J Looijenga, et al.
Clinical Genetics|April 4, 2008
Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysisM Barbaro, A Cicognani, A Balsamo, et al.
The Journal of Clinical Endocrinology and Metabolism|November 5, 1997
Prophylactic adrenalectomy of a three-year-old girl with congenital adrenal hyperplasia: pre- and postoperative studiesD F Gunther, T P Bukowski, E M Ritzén, et al.
Human Reproduction (Oxford, England)|June 19, 2014
Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platformA Norling, A L Hirschberg, K A Rodriguez-Wallberg, et al.
The Journal of Biological Chemistry|April 16, 1998
Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stabilityA Nikoshkov, S Lajic, A Vlamis-Gardikas, et al.
Acta Paediatrica (Oslo, Norway : 1992)|August 1, 1995
Early growth is not increased in untreated moderately severe 21-hydroxylase deficiencyA Thilén, K A Woods, L A Perry, et al.
The Journal of Clinical Endocrinology and Metabolism|May 6, 2004
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasiaM Barbaro, S Lajic, L Baldazzi, et al.
Pageof 6