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1.
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Hum Mutat
; 40(11): 2033-2043, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31231873
2.
Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency.
J Clin Endocrinol Metab
; 95(3): 1463-8, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-20097706
3.
Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.
Biochimie
; 91(6): 796-803, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19278620
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