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Publications by G Damante

Thyroid Defects Due to Pax8 Gene Mutations

European Journal of Endocrinology
MedicineEndocrinologyMetabolismDiabetes
1998English

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Genotype–phenotype Correlation in Inherited Brain Myelination Defects Due to Proteolipid Protein Gene Mutations

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2000English

OXPHOS Defects Due to mtDNA Mutations: Glutamine to the Rescue!

Cell Metabolism
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Limb-Girdle Muscular Dystrophy Due to Emerin Gene Mutations

Archives of Neurology
2007English

Structural Defects of a Pax8 Mutant That Give Rise to Congenital Hypothyroidism

Biochemical Journal
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1999English

MRI Characteristics and Scoring in HDLS Due to CSF1R Gene Mutations

Neurology
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2012English

Comparative Genomics Reveals a Functional Thyroid-Specific Element in the Far Upstream Region of the PAX8 Gene

BMC Genomics
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2010English

Material-Driven Fibronectin Assembly Rescues Matrix Defects Due to Mutations in Collagen IV in Fibroblasts

2020English

Tetrahydrobiopterin-Responsive Hyperphenylalaninaemia Due to Homozygous Mutations in the Phenylalanine Hydroxylase Gene

European Journal of Pediatrics
Child HealthPediatricsPerinatology
2003English

Childhood Somatotroph Pituitary Adenomas Due to Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations

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