Eugenia R. Valadares - Publications

Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia.

Journal: Molecular genetics and metabolism reports

Published: February 25, 2022

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Journal: Frontiers in genetics

Published: January 19, 2022

Autism and Down syndrome: early identification and diagnosis.

Journal: Arquivos de neuro-psiquiatria

Published: May 02, 2021

Mother's sense of coherence and dental characteristics in children and adolescents with osteogenesis imperfecta: A paired study.

Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

Published: September 29, 2020

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 22, 2020

Quantitative analysis of amino acids by HPLC in dried blood and urine in the neonatal period: Establishment of reference values.

Journal: Biomedical chromatography : BMC

Published: January 31, 2020

Oral health of Brazilian individuals with mucopolyssaccaridosis.

Journal: European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry

Published: August 13, 2019

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Journal: American journal of human genetics

Published: May 24, 2019

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study.

Journal: Journal of pediatric genetics

Published: March 19, 2019

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells.

Journal: Biology of sex differences

Published: August 24, 2017

CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

Journal: Molecular genetics & genomic medicine

Published: May 20, 2017

Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.

Journal: Meta gene

Published: April 28, 2016