Presentation
Scientific Publications
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2025
Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenes..., J Clin Endocrinol Metab
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2023
Borealin/CDCA8 deficiency alters thyroid development and results in papillary..., Front Endocrinol (Lausanne)
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2020
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis..., Am J Hum Genet
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2020
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis..., Am J Hum Genet
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2019
Effectiveness and safety of the tri-iodothyronine analogue Triac in children ..., Lancet Diabetes Endocrinol
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2019
Glibenclamide oral suspension: Suitable and effective in patients with neonat..., Pediatr Diabetes
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2018
Arterial Spin Labeling and Central Precocious Puberty., Clin Neuroradiol
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2018
Effectiveness and safety of long-term treatment with sulfonylureas in patient..., Lancet Diabetes Endocrinol
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2016
Mutations in BOREALIN cause thyroid dysgenesis., Hum Mol Genet
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2016
Update of Thyroid Developmental Genes., Endocrinol Metab Clin North Am
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2015
Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patie..., Diabetes Care
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2014
DYRK1A BAC transgenic mouse: a new model of thyroid dysgenesis in Down syndrome., Endocrinology