Temis M. Felix

Ramiro Barcelos St, 2350
Porto Alegre, RS 90035903, Brazil

Last Updated: 09/26/2026

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Found 73 publications

Mapping Rare Disease Registries in Brazil: Situational Analysis and Proposal for National Unification.

Mapping Rare Disease Registries in Brazil: Situational Analysis and Proposal for National Unification.

Journal: Journal of medical systems

Published: February 01, 2026

Main Recommendations for Developing Education and Awareness Strategies for Rare Diseases: Scoping Review.

Main Recommendations for Developing Education and Awareness Strategies for Rare Diseases: Scoping Review.

Journal: JMIR medical education

Published: June 13, 2025

Promoting Comprehensive Care for People With Rare Diseases in a Tertiary Care Setting in Brazil: Protocol for a Mixed Methods Implementation Study.

Promoting Comprehensive Care for People With Rare Diseases in a Tertiary Care Setting in Brazil: Protocol for a Mixed Methods Implementation Study.

Journal: JMIR research protocols

Published: December 05, 2024

Is late diagnosis of Duchenne muscular dystrophy still a reality?

Is late diagnosis of Duchenne muscular dystrophy still a reality?

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: September 23, 2024

Building a National Policy for Rare Disease in Brazil.

Building a National Policy for Rare Disease in Brazil.

Journal: Journal of community genetics

Published: July 07, 2024

CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus.

CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus.

Journal: American journal of medical genetics. Part A

Published: June 22, 2024

Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies.

Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies.

Journal: Genes

Published: June 14, 2024

Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil.

Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil.

Journal: Jornal de pediatria

Published: March 26, 2024

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.

Journal: Genes

Published: March 22, 2024

Mastication and electrical activation in the masseter and anterior temporalis muscles of children and adolescents with osteogenesis imperfecta.

Mastication and electrical activation in the masseter and anterior temporalis muscles of children and adolescents with osteogenesis imperfecta.

Journal: CoDAS

Published: February 22, 2024

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.

Journal: Scientific reports

Published: February 19, 2024

Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.

Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.

Journal: Orphanet journal of rare diseases

Published: November 25, 2023

Showing 1-12 of 73

Last Updated: 09/26/2026