Victoria Huckstadt

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 5

Top Topics

Congenital Heart Disease

Top Venues

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Rosario Ramos Mejía, Karen E Heath, Silvia Modamio-HØybjØr, Victoria Huckstadt, Calcagni Julián, Rodrigo G Remondino, Virginia Fano
Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related. American journal of medical genetics. Part A (2023)
Mariana Del Pino, Victoria Huckstadt, Francisca Diaz-Gonzalez, Maria Gabriela Obregon, Karen E Heath, Virginia Fano
Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient. American journal of medical genetics. Part A (2023)
Josefina Chinton, Victoria Huckstadt, Maria Eugenia Foncuberta, Maria Mercedes Perez, Mara Cecilia Bonetto, Luis Pablo Gravina, María Gabriela Obregon
Challenges in genetic diagnosis, co-occurrence of 22q11.2 deletion syndrome and Noonan syndrome. American journal of medical genetics. Part A 188 (8) (2022)
Victoria Huckstadt, Josefina Chinton, Abel Gomez, María Gabriela Obregon, Luis Pablo Gravina
Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported. American journal of medical genetics. Part A 185 (4) (2021)
Boris Rebolledo-Jaramillo, Maria Gabriela Obregon, Victoria Huckstadt, Abel Gomez, Gabriela M Repetto
Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome. Genes 12 (1) (2021)