Claudia F. Reis
Santo Antonio De Felheiros, Portugal
Last Updated: 09/26/2026
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Found 13 publications
Alport Syndrome Family Screening and Management: Experience of a Tertiary Center.
Journal: Kidney medicine
Published: July 30, 2026
Severe Sepsis in an Adolescent With a De Novo Variant in the EP300 Gene Associated With Rubinstein-Taybi Syndrome Type 2: A Case Report.
Journal: Cureus
Published: July 05, 2026
Expanding the ATP2B3 Phenotype: Progressive Dystonia and Basal Ganglia Atrophy.
Journal: Pediatric neurology
Published: April 06, 2026
Clinical Insights Into the COL4A3 p.Gly407Arg Variant in Alport Syndrome.
Journal: Kidney360
Published: December 01, 2025
A child with CARD14-associated papulosquamous eruption (CAPE) successfully treated with ustekinumab.
A child with CARD14-associated papulosquamous eruption (CAPE) successfully treated with ustekinumab.
Journal: Pediatric dermatology
Published: March 08, 2023
Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling-case report.
Journal: Frontiers in genetics
Published: February 17, 2023
Letter to the Editor: Successful Prenatal Management of Inherited Congenital Non-Autoimmune Hyperthyroidism.
Journal: Thyroid : official journal of the American Thyroid Association
Published: January 31, 2023
Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center.
Journal: JBRA assisted reproduction
Published: August 02, 2022
Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern.
Journal: Taiwanese journal of obstetrics & gynecology
Published: October 17, 2021
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Journal: Biological psychiatry
Published: March 27, 2019
Spare Roof Technique: A Middle Third New Technique.
Journal: Facial plastic surgery : FPS
Published: February 11, 2016
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
Journal: European journal of medical genetics
Published: May 17, 2015
Last Updated: 09/26/2026