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1.
Improving service delivery by evaluation of the referral pattern and capacity in a clinical genetics setting.
Am J Med Genet C Semin Med Genet
; 151C(3): 200-6, 2009 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-19621462
2.
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
J Clin Invest
; 127(5): 1700-1713, 2017 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28346228
3.
Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region.
Hum Mutat
; 21(4): 408-23, 2003 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-12655556
4.
Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.
Hum Mutat
; 21(4): 424-40, 2003 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-12655557
5.
A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway.
J Clin Endocrinol Metab
; 89(3): 1068-75, 2004 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-15001589
6.
Human growth hormone I gene expression is influenced in a complex haplotype-dependent fashion by polymorphic variation in both the proximal promoter and the locus control region.
J Pediatr Endocrinol Metab
; 15 Suppl 5: 1429, 2002 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-12510999
7.
Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke.
Hum Genet
; 119(5): 527-40, 2006 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-16572267
8.
X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.
Clin Dysmorphol
; 18(4): 218-21, 2009 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-19654509
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