Concepedia

Cristina Touguinha Neves Medina

CT

6

Publications

161

Citations

6

H-Index

1990

Active since

Affiliations

Universidade Católica de Brasília(Current)

Governo do Distrito Federal

Secretaria de Estado de Educação do Distrito Federal

Universidade de Brasília

Cristina Touguinha Neves Medina is an author at Universidade Católica de Brasília specializing in medicine, newborn medicine, and pediatrics.

Top concepts

Publications per year

1990–2020

6

Publications

6

Severe Silver‐Russell syndrome and translocation (17;20) (q25;q13)

María de Lourdes Ramírez‐Dueñas, Cristina Touguinha Neves Medina, R Ocampo-Campos et al. · Clinical Genetics · 1992 · 64 citations

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

D.L. Polla, Maria Terezinha Cardoso, Mayara C. B. Silva et al. · PLoS ONE · 2015 · 41 citations · Full text

Partial 1q Duplications and Associated Phenotype

Marcos L.M. Morris, José Eduardo Baroneza, Cristina Touguinha Neves Medina et al. · Molecular Syndromology · 2015 · 17 citations · Full text

, , +14

Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review

Renata Lazari Sandoval, Carlos Moreno Zaconeta, Paulo Roberto Margotto et al. · Revista Paulista de Pediatria (English Edition) · 2016 · 14 citations · Full text

, , +10

Pathogenic variants in the<i>TRIP11</i>gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A

Cristina Touguinha Neves Medina, Renata Lazari Sandoval, Gabriela Oliveira et al. · American Journal of Medical Genetics Part A · 2020 · 14 citations

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