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Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency
Journal of Clinical Endocrinology and Metabolism, 07/02/09
Dattani M et al. - IGHD patients with severe growth failure and a positive family history should be screened for genetic mutations; the evolving endocrinopathy observed in some of these patients suggests the need for long-term follow-up.
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Today in Basic Science/Genetics...keeping you current
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Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci
Human Molecular Genetics, 11/25/09
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Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders
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Today in Endocrinology...keeping you current
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Individuation of different metabolic phenotypes in normal glucose tolerance test
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Are Hemoglobin Levels Elevated in Type 1 Diabetes
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Effects of metformin with or without supplementation with folate on homocysteine levels and vascular endothelium of women with polycystic ovary syndrome
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