Telma Barbosa

Santo Antonio De Felheiros, 4050651, Portugal

Last Updated: 09/26/2026

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Found 13 publications

Evaluating the Impact of Newborn Screening for Cystic Fibrosis in Portugal: A Decade of Insights and Outcomes.

Evaluating the Impact of Newborn Screening for Cystic Fibrosis in Portugal: A Decade of Insights and Outcomes.

Journal: International journal of neonatal screening

Published: May 18, 2025

Methaemoglobinemia in paediatrics: a complex diagnostic journey.

Methaemoglobinemia in paediatrics: a complex diagnostic journey.

Journal: BMJ case reports

Published: February 14, 2025

Aquagenic wrinkling of the palms in a teenager with cystic fibrosis during the COVID-19 pandemic.

Aquagenic wrinkling of the palms in a teenager with cystic fibrosis during the COVID-19 pandemic.

Journal: European journal of dermatology : EJD

Published: October 12, 2023

Domiciliary High-Flow Nasal Therapy in Primary Ciliary Dyskinesia.

Domiciliary High-Flow Nasal Therapy in Primary Ciliary Dyskinesia.

Journal: Cureus

Published: January 24, 2023

Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility.

Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility.

Journal: Journal of assisted reproduction and genetics

Published: December 05, 2022

Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences.

Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences.

Journal: Respiratory medicine

Published: March 31, 2022

Pulmonary Exacerbations in Pediatric Patients: Retrospective Study in a Portuguese Cystic Fibrosis Center.

Pulmonary Exacerbations in Pediatric Patients: Retrospective Study in a Portuguese Cystic Fibrosis Center.

Journal: Children (Basel, Switzerland)

Published: November 17, 2021

Use of recombinant human deoxyribonuclease in pediatric intensive care unit - a single-center experience.

Use of recombinant human deoxyribonuclease in pediatric intensive care unit - a single-center experience.

Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

Published: May 29, 2020

Clinical and Genetic Analysis of Children with Kartagener Syndrome.

Clinical and Genetic Analysis of Children with Kartagener Syndrome.

Journal: Cells

Published: June 25, 2019

Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough.

Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough.

Journal: Advances in medical sciences

Published: June 15, 2019

Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.

Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.

Journal: Journal of assisted reproduction and genetics

Published: April 09, 2019

Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.

Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.

Journal: International journal of neonatal screening

Published: May 10, 2018

Showing 1-12 of 13

Last Updated: 09/26/2026