Concepedia

Débora Romeo Bertola

DR

126

Publications

6.8K

Citations

44

H-Index

1999

Active since

Affiliations

Universidade de São Paulo(Current)

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

Universidade Federal de São Paulo

Baylor College of Medicine

Inserm

Débora Romeo Bertola is an author at Universidade de São Paulo specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

1999–2023

126

Publications

126

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

Marco Tartaglia, Kamini Kalidas, Adam Shaw et al. · The American Journal of Human Genetics · 2002 · 783 citations · Full text

, , +6

Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy

Chong Ae Kim, Marc Délepine, Emilie Boutet et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 386 citations

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Carlos R. Ferreira, Geert Mortier et al. · American Journal of Medical Genetics Part A · 2023 · 318 citations · Full text

Rare variants in <i>SOS2</i> and <i>LZTR1</i> are associated with Noonan syndrome

Guilherme Lopes Yamamoto, Meire Aguena, Monika Goś et al. · Journal of Medical Genetics · 2015 · 237 citations · Full text

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 203 citations · Full text

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