Concepedia

Teresa Kay

TK

Statistics

Publications

19

Citations

542

H-Index

15

Active since

2001

Affiliations

Hospital de Dona Estefânia(Current)

Hospital do Divino Espírito Santo

Universidade dos Açores

Universidade do Porto

Hospital de Santo Espirito de Angra do Heroísmo

Teresa Kay is an author at Hospital de Dona Estefânia specializing in genetics, life sciences, and genetic disorders.

ORCID

Publications per year

2001–2023

19

Publications

19

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions

Ana Friães, Ana Toste Rêgo, José Maria Aragüés et al. · Molecular Genetics and Metabolism · 2006 · 64 citations

, , +11

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal

Frank J. Kaiser, Paola Brega, Michael L. Raff et al. · European Journal of Human Genetics · 2003 · 58 citations

, , +7

Increased transcript diversity: novel splicing variants of Machado–Joseph Disease gene (ATXN3)

Conceição Bettencourt, Cristina Santos, Rafaél Montiel et al. · Neurogenetics · 2009 · 46 citations

, , +14

Nonoptical Massive Parallel DNA Sequencing of<i>BRCA1</i>and<i>BRCA2</i>Genes in a Diagnostic Setting

José Luís Costa, Sónia Sousa, Ana Justino et al. · Human Mutation · 2013 · 39 citations

, , +17

Analysis of segregation patterns in Machado–Joseph disease pedigrees

Conceição Bettencourt, Cristina Santos, Teresa Kay et al. · Journal of Human Genetics · 2008 · 38 citations

, , +13

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