X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (45) 45
endocrinology & metabolism (38) 38
index medicus (32) 32
mutation (23) 23
female (19) 19
male (19) 19
familial glucocorticoid deficiency (15) 15
animals (14) 14
infant (13) 13
abridged index medicus (12) 12
child (12) 12
child, preschool (12) 12
genetic aspects (12) 12
adrenal insufficiency - genetics (11) 11
mutations (11) 11
receptor, melanocortin, type 2 - genetics (11) 11
glucocorticoids - deficiency (10) 10
mice (9) 9
acth (8) 8
adolescent (8) 8
adrenocorticotropin receptor (8) 8
body height (8) 8
endocrine system (8) 8
gene mutations (8) 8
infant, newborn (8) 8
phenotype (8) 8
physiological aspects (8) 8
receptors, somatotropin - genetics (8) 8
acth receptor (7) 7
corticosteroids (7) 7
functional-characterization (7) 7
gene (7) 7
membrane proteins - genetics (7) 7
pedigree (7) 7
proteins (7) 7
research (7) 7
adrenal glands - metabolism (6) 6
adrenocorticotropin receptor gene (6) 6
children (6) 6
factor-i (6) 6
growth disorders - genetics (6) 6
laron syndrome - genetics (6) 6
molecular sequence data (6) 6
oxidative stress (6) 6
adrenal (5) 5
adrenal insufficiency (5) 5
adrenocorticotropic hormone - physiology (5) 5
analysis (5) 5
cell biology (5) 5
diagnosis (5) 5
dna mutational analysis (5) 5
growth hormone (5) 5
homozygote (5) 5
melanocortin 2 receptor (5) 5
mutation, missense (5) 5
risk factors (5) 5
steroids (5) 5
accessory protein (4) 4
amino acid sequence (4) 4
expression (4) 4
genotype (4) 4
growth hormone insensitivity (4) 4
growth hormone receptor (4) 4
hormones, hormone substitutes, and hormone antagonists (4) 4
human growth hormone - metabolism (4) 4
idiopathic short stature (4) 4
insulin-like growth factor i - metabolism (4) 4
insulin-like growth factor i - therapeutic use (4) 4
messenger-rna (4) 4
niacinamide (4) 4
original (4) 4
steroid metabolism, inborn errors - genetics (4) 4
steroidogenesis (4) 4
unresponsiveness (4) 4
abnormalities (3) 3
acth resistance (3) 3
acute-regulatory-protein (3) 3
adrenal cortex neoplasms - genetics (3) 3
adrenal gland diseases - genetics (3) 3
adrenal glands (3) 3
adrenocorticotropic hormone - blood (3) 3
adult (3) 3
aged (3) 3
biochemistry & molecular biology (3) 3
carrier proteins - genetics (3) 3
cell line (3) 3
cell line, tumor (3) 3
cells (3) 3
cho cells (3) 3
clinical s (3) 3
consanguinity (3) 3
cortex (3) 3
cricetinae (3) 3
cricetulus (3) 3
deficiency (3) 3
deletion (3) 3
drug resistance (3) 3
dwarfism (3) 3
endocrinology (3) 3
enzymes (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Genetics, ISSN 1061-4036, 07/2012, Volume 44, Issue 7, pp. 740 - 742
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2009, Volume 106, Issue 15, pp. 6146 - 6151
Journal Article
European journal of endocrinology, ISSN 0804-4643, 12/2017, Volume 177, Issue 6, pp. 485 - 501
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2017, Volume 127, Issue 3, pp. 942 - 953
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 08/2014, Volume 99, Issue 8, pp. E1556 - E1563
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 05/2019, Volume 104, Issue 5, pp. 1484 - 1490
Multiple autosomal recessive genes have been etiologically linked to primary adrenal insufficiency (PAI). Recently, sphingosine-1-phosphate lyase 1 (SGPL1)... 
DISEASE TYPE-C | DIAGNOSIS | MUTATIONS | ENDOCRINOLOGY & METABOLISM
Journal Article
European journal of endocrinology, ISSN 0804-4643, 05/2018, Volume 178, Issue 5, pp. 481 - 489
Journal Article