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List of works by Luciana Montenegro

High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53

scientific article published on 07 March 2020

MON-251 Clinical Features of a Large Cohort of Patients with Familial Central Precocious Puberty Caused by Loss-of-Function Mutations in MKRN3

Novel Genetic and Biochemical Findings of DLK1 in Children with Central Precocious Puberty: A Brazilian-Spanish Study

scientific article published on 17 July 2020

OR17-2 Comprehensive Genetic Investigation of Patients with Central Precocious Puberty Associated with Complex Phenotypes

OR17-5 Clinical and Genetic Features of Constitutional Delay of Growth and Puberty

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

scientific article published on 09 March 2020

SUN-031 Quantification of Pooled Libraries for Optimizing Cluster Density in Next Generation Sequencing.

scientific article published on 30 April 2019

SUN-035 Performance of Mutation Pathogenicity Prediction Tools on Missense Variants Associated with 46XY Disorders of Sex Development

scientific article published on 30 April 2019

[Clinical and molecular aspects of congenital isolated hypogonadotropic hypogonadism]

scientific article published on 01 November 2011

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