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1.
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11ß-hydroxylase deficiency.
Proc Natl Acad Sci U S A
; 114(10): E1933-E1940, 2017 03 07.
Article
in English
| MEDLINE | ID: mdl-28228528
2.
Evaluation of a combined blood glucose monitoring and gaming system (Didget®) for motivation in children, adolescents, and young adults with type 1 diabetes.
Pediatr Diabetes
; 14(5): 350-7, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-21699639
3.
The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth
J Clin Res Pediatr Endocrinol
; 13(4): 461-467, 2021 11 25.
Article
in English
| MEDLINE | ID: mdl-33045800
4.
Six year old with autoimmune polyglandular syndrome: can genetics tell us the story?
J Pediatr Endocrinol Metab
; 23(7): 725-8, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20857845
5.
Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency.
J Pediatr Endocrinol Metab
; 21(2): 185-90, 2008 Feb.
Article
in English
| MEDLINE | ID: mdl-18422032
6.
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
N Engl J Med
; 350(18): 1838-49, 2004 Apr 29.
Article
in English
| MEDLINE | ID: mdl-15115830
7.
Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.
J Endocr Soc
; 1(4): 345-358, 2017 Apr 01.
Article
in English
| MEDLINE | ID: mdl-29188236
8.
Efficacy and safety of triptorelin 6-month formulation in patients with central precocious puberty.
J Pediatr Endocrinol Metab
; 29(11): 1241-1248, 2016 Nov 01.
Article
in English
| MEDLINE | ID: mdl-26887034
9.
The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.
J Clin Endocrinol Metab
; 96(11): E1896-904, 2011 Nov.
Article
in English
| MEDLINE | ID: mdl-21900382
10.
Coincidence of multiple endocrine neoplasia type IIa and type 1 diabetes mellitus.
J Pediatr Endocrinol Metab
; 18(9): 925-6, 2005 Sep.
Article
in English
| MEDLINE | ID: mdl-16279372
11.
Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain.
Horm Res Paediatr
; 74(6): 406-11, 2010.
Article
in English
| MEDLINE | ID: mdl-20606392
12.
Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative.
Int J Pediatr Endocrinol
; 2010: 275213, 2010.
Article
in English
| MEDLINE | ID: mdl-21274448
13.
Management of pediatric patients with type 1 diabetes.
Pediatr Ann
; 43(3): 115-20, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24605859
14.
Turner syndrome phenotype with 47,XXX karyotype: further investigation warranted?
Am J Med Genet A
; 125A(1): 106-7, 2004 Feb 15.
Article
in English
| MEDLINE | ID: mdl-14755478
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