about
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesisHomozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant.Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice.The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 DeficiencyInherited defects of thyroxine-binding proteins.Mct8-deficient mice have increased energy expenditure and reduced fat mass that is abrogated by normalization of serum T3 levels.Benign hereditary chorea: clinical and neuroimaging features in an Italian family.Temozolomide treatment of a malignant pheochromocytoma and an unresectable MAX-related paraganglioma.A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation.Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumorsScreening for mutations in the ISL1 gene in patients with thyroid dysgenesisA multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype
P50
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P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0001-5835-1709
@en
name
Alfonso Massimiliano Ferrara
@ast
Alfonso Massimiliano Ferrara
@en
Alfonso Massimiliano Ferrara
@es
Alfonso Massimiliano Ferrara
@nl
type
label
Alfonso Massimiliano Ferrara
@ast
Alfonso Massimiliano Ferrara
@en
Alfonso Massimiliano Ferrara
@es
Alfonso Massimiliano Ferrara
@nl
prefLabel
Alfonso Massimiliano Ferrara
@ast
Alfonso Massimiliano Ferrara
@en
Alfonso Massimiliano Ferrara
@es
Alfonso Massimiliano Ferrara
@nl
P106
P21
P31
P496
0000-0001-5835-1709