المؤلفون: Gidlöf, Sebastian

مصطلحات موضوعية: Adrenal Hyperplasia, Congenital -- diagnosis, Adrenal Hyperplasia, Congenital -- genetics, Adrenal Hyperplasia, Congenital -- physiopathology, Steroid 21-Hydroxylase -- genetics, Fetal Development -- physiology, Gestational Age, Androgens -- physiology, Neonatal Screening, Pregnancy

Degree: Diss. (sammanfattning) Stockholm : Karolinska Institutet, 2013

المؤلفون: Barbaro, Michela

مصطلحات موضوعية: Sex differentiation disorders -- diagnosis, Sex differentiation disorders -- genetics, Adrenal hyperplasia, congenital -- genetics, Mutation, missense, Sex chromosome aberrations, Gonadal dysgenesis -- diagnosis, Gonadal dysgenesis -- genetics, Androgen-insensitivity syndrome -- diagnosis, Androgen-insensitivity syndrome -- genetics

Degree: Diss. (sammanfattning) Stockholm : Karolinska institutet, 2008

المؤلفون: Robins, Tiina

مصطلحات موضوعية: Adrenal hyperplasia, congenital -- genetics, Mutation, missense, Steroid 21-hydroxylase -- genetics, Genotype, Phenotype

URL الوصول: http://diss.kib.ki.se/2005/91-7140-529-1/

Degree: Diss. (sammanfattning) Stockholm : Karol. inst., 2005

المؤلفون: Lajić, Svetlana

مصطلحات موضوعية: Adrenal hyperplasia, congenital: genetics

URL الوصول: http://diss.kib.ki.se/search/diss.se.cfm?19980604laji

Degree: Diss. (sammanfattning) Stockholm : Karol. inst.

المؤلفون: Wedell, Anna

مصطلحات موضوعية: Adrenal hyperplasia, congenital: genetics

Degree: Diss. (sammanfattning) Stockholm : Karol. inst.

المؤلفون: Kobus, K., Hartl, D., Ott, C.E., Osswald, M., Huebner, A., Hagen, M. von der, Emmerich, D., Kuhnisch, J., Morreau, H., Hes, F.J., Mautner, V.F., Harder, A., Tinschert, S., Mundlos, S., Kolanczyk, M.

المساهمون: Clinical sciences

المصدر: PLoS ONE
PLoS ONE, Vol 10, Iss 3, p e0119030 (2015)
PLoS One
PLoS ONE, 10(3)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Adolescent, Adrenal Cortex/metabolism, Science, Loss of Heterozygosity, Neurofibromatosis 1/genetics, Adrenal Hyperplasia, Congenital/genetics, Mice, Adrenocorticotropic Hormone, Adrenocorticotropic Hormone/metabolism, Animals, Humans, Child, Medicine(all), Homeodomain Proteins, Neurofibromin 1, Adrenal Hyperplasia, Congenital, nervous system diseases, Child, Preschool, Adrenal Cortex, Medicine, Female, Homeodomain Proteins/genetics, Neurofibromin 1/genetics, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::77dfdb0b7c8e5c4f35061f94659cf0bf
https://pubmed.ncbi.nlm.nih.gov/25775093

المؤلفون: Hannah E Ivison, Wiebke Arlt, Dominique Maiter, Julia Kirchheiner, Dorota Tomalik-Scharte, Uwe Fuhr

المساهمون: UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition

المصدر: European Journal of Endocrinology
European Journal of Endocrinology, Vol. 163, no. 6, p. 919-924 (2010)

مصطلحات موضوعية: Adult, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, NADPH-Ferrihemoprotein Reductase - deficiency, Antley-Bixler Syndrome Phenotype - genetics, metabolism, Disorders of Sex Development, Aryl Hydrocarbon Hydroxylases - metabolism, Endocrinology, Tolbutamide, Cytochrome P-450 Enzyme System, In vivo, Cytochrome P-450 CYP1A2, Internal medicine, medicine, Humans, Congenital adrenal hyperplasia, Cytochrome P-450 CYP1A2 - metabolism, Aged, Cytochrome P-450 CYP2C9, NADPH-Ferrihemoprotein Reductase, biology, CYP3A4, Adrenal Hyperplasia, Congenital, Steroids - metabolism, RC0254 Neoplasms. Tumors. Oncology (including Cancer), Disorders of Sex Development - genetics, Cytochrome P450, General Medicine, Middle Aged, medicine.disease, Adrenal Hyperplasia, Congenital - genetics, metabolism, Liver, Sex steroid, Liver - metabolism, biology.protein, Clinical Study, Female, Steroids, Aryl Hydrocarbon Hydroxylases, Cytochrome P-450 Enzyme System - genetics, metabolism, Antley-Bixler Syndrome Phenotype, Drug metabolism, Glucocorticoid, medicine.drug

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e727ab4150306ab0aac3d631df5a6120
http://eprints.bham.ac.uk/556/

المؤلفون: UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Tomalik-Scharte, Dorota, Maiter, Dominique, Kirchheiner, Julia, Ivison, Hannah E., Fuhr, Uwe, Arlt, Wiebke

المصدر: European Journal of Endocrinology, Vol. 163, no. 6, p. 919-924 (2010)

مصطلحات الفهرس: Adrenal Hyperplasia, Congenital - genetics, metabolism, Adult, Liver - metabolism, Middle Aged, NADPH-Ferrihemoprotein Reductase - deficiency, Steroids - metabolism, Aged, Antley-Bixler Syndrome Phenotype - genetics, metabolism, Aryl Hydrocarbon Hydroxylases - metabolism, Cytochrome P-450 CYP1A2 - metabolism, Cytochrome P-450 Enzyme System - genetics, metabolism, Disorders of Sex Development - genetics, Female, Humans, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/93355