Paula Frassinetti Vasconcelos de Medeiros

5PUBLICATIONS
76CO-AUTHORS
Respiratory diseasesEpidemiological modellingMedical infection agents (incl. prions)Epigenetics (incl. genome methylation and epigenomics)Cancer genetics
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Publications (5)

|Sep 15, 2026
Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.

|Feb 10, 2024
Real-world data of Brazilian adults with X-linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts.

Maria Helena Vaisbich, Antônio César Paulillo de Cillo, Bárbara Campolina C Silva

|Jun 02, 2021
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.

Simone Silva Dos Santos-Lopes, Jessica Maria Florêncio de Oliveira, Denise de Queiroga Nascimento

|May 07, 2021
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.

Juliana Alves Josahkian, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto

|Apr 03, 2020
Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.

K M Santiago, L P Castro, J P D Neto

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Frequent Collaborators

2 joint publications

Mara Lucia Schmitz Ferreira Santos

2 joint publications

Roberto Giugliani

2 joint publications

Raquel Tavares Boy da Silva

2 joint publications

Chong Ae Kim