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OrphaData
2023-10-18
18
Oct
2023
Resource not read: Query News
Resource not read: Query Programmes
Resource not read: Query You and Your Hormones
Two new mutations in the RET protooncogene: R770Q in coincidence with Y791N in the same family with medullary thyroid carcinoma
2008-05-01
01
May
2008
Outstanding Clinical Practitioner Award: Improving the care of patients with thyroid diseases
2021-10-18
18
Oct
2021
Primary hypothyroidism and unilateral thyroid eye disease: A case report
2002-03-01
01
Mar
2002
A Rare Case of Intracranial Calcification: Fahr Disease
2016-05-13
13
May
2016
A rare case of thyrotropinoma inappropriately treated as Graves’ disease
2025-05-09
09
May
2025
Kyrle’s disease: a rare complication of diabetes (case report)
2025-05-09
09
May
2025
Learning from rare diseases: from corticotroph deficiency to corticotroph adenomas
2025-05-09
09
May
2025
Rare Presentation of Rare Disease: Case report of Prenatal onset Hypophosphatasia
2024-10-28
28
Oct
2024
A rare association of hyperthyroidism with Darier disease: case report
2023-05-02
02
May
2023
A rare case of Moyamoya disease in association with Graves Disease in a Caucasian female
2017-10-20
20
Oct
2017
A rare case of Moyamoya disease in association with Graves Disease in a Caucasian female
2017-10-20
20
Oct
2017
A rare case of hydatid cyst disease in the adrenal gland
2023-10-31
31
Oct
2023
Association of Pituicytoma and Cushing’s Disease: a Rare Pediatric Case
2014-08-28
28
Aug
2014
Hypoparathyroidism and celiac disease a rare autoimmune disease combination
2014-04-17
17
Apr
2014
Histological categorization of equine ovarian follicles from healthy and diseased mares
2016-08-22
22
Aug
2016
Autoimmune hypoglycemia: a rare case of Hirata’s disease
2024-05-06
06
May
2024
Graves’ disease and isolated langerhans cell histiocytosis, a rare case presentation
2021-05-15
15
May
2021
15.16. 100,000 genomes pilot on rare-disease diagnosis in health care - preliminary report
2022-09-12
12
Sep
2022
A rare differential diagnosis of Paget’s disease
2016-05-13
13
May
2016
Paediatric Cushing Disease: One Patient’s Path to Cure
2016-08-19
19
Aug
2016
Gitelman syndrome, a rare disease: case report
2023-05-02
02
May
2023
Sex Non-Specific Growth Charts and Potential Clinical Implications in the Care of Transgender Youth and Rare Disease Populations
2023-08-25
25
Aug
2023
Diverse Presentations of Hypophosphatasia in Paediatric Patients: A Review of the Case Literature
2015-08-26
26
Aug
2015
Prevalence of celiac disease in autoimmune thyroid diseases, and its associaton with other autoimmune disesases: a single center study in Argentina
2019-05-01
01
May
2019
Rare Disease Registries: Perception of Parents and Young People
2014-08-28
28
Aug
2014
Hospitalizations in people with rare bone diseases across age groups: a population-based cohort study in switzerland
2025-05-09
09
May
2025
Testicular neuroendocrine tumour with carcinoid heart diseaseon the background of urological cancers: a trio of malignancies
2024-11-15
15
Nov
2024
Pseudohyperkalaemia in thrombocytosis – a reminder
2025-02-19
19
Feb
2025
Severe hyponatremia in a case of ovarian hyperstimulationSyndrome
2021-08-31
31
Aug
2021
A Case of Short Stature Presenting with Multiple Exocytosis
2022-08-29
29
Aug
2022
The First Case of Primary Generalized Glucocorticoid Resistance in Serbia in an 8-Year-Old Boy with G679S Mutation of the <em>NR3C1</em> Gene
2015-08-26
26
Aug
2015
Managing hypertension can be a night-mare!
2021-05-15
15
May
2021
The impact smoking on the course of type 2 diabetes mellitus. Case study
2023-05-02
02
May
2023
12.5. Perspectives of rare disease experts on newborn genome sequencing
2023-09-08
08
Sep
2023
McCune Albright syndrome – a clinician’s challenge and a multidisciplinary approach: case report
2022-05-07
07
May
2022
Rare case of Graves’ disease resistant to methimazole: a case report
2023-05-02
02
May
2023
A rare cause of elevated liver enzymes: Addison’s disease
2010-04-01
01
Apr
2010
Epidemiology of Addison's disease in the area of banbury, oxfordshire
2011-04-01
01
Apr
2011
How rare bone disease will advance bone biology (Role of the Musculoskeletal GeCIP)
2018-11-02
02
Nov
2018
Polyuria-polydipsia- first sign of a rare hematological disease
2022-08-29
29
Aug
2022
The Significance of Family History in the Diagnosis of Hereditary Rare Diseases: A Case Report of Misdiagnosed 1q21.1 Microdeletion Syndrome and Literature Review
2024-10-28
28
Oct
2024
Leo-Bueger’s disease: a rare cause of gangrene in diabetics
2022-05-07
07
May
2022
The effect of CCR2 G190A gene polymorphism on development of diabetic coronary artery disese
2013-04-01
01
Apr
2013
4.10. Standards of Care for the Health of Transgender and Gender Diverse People, Version 8
2023-09-08
08
Sep
2023
Why does the endocrine dog not bark in the cytokine night?
2012-03-01
01
Mar
2012
Curability rate of cushing’s disease 1 year posttreatment
2020-08-21
21
Aug
2020
Morbid obesity revealing a rare genetic disease
2024-10-28
28
Oct
2024
Morbid obesity revealing a rare genetic disease
2024-10-28
28
Oct
2024
Morbid obesity revealing a rare genetic disease
2023-08-25
25
Aug
2023
Hearing the patient's voice: a focus group listening to the child and parent experiences of living with rare bone diseases
2017-07-11
11
Jul
2017
Challenge the Experts – Clinical Case Studies of Cushing’s Syndrome – Reloaded! A live and interactive session. An HRA Pharma Rare Diseases sponsored satellite symposium
2021-10-15
15
Oct
2021