Victoria Huckstadt

7PUBLICATIONS
19CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsTransport properties and non-equilibrium processesCondensed matter imagingNanomedicineNaturopathy
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Publications (7)

|Sep 14, 2026
Molecular diagnosis of spinal muscular atrophy: Experience in a pediatric hospital in Argentina.

|Jun 09, 2026
Geleophysical dysplasia associated with FBN1 variants and phenotypic variability: A case series in Argentine children.

|Nov 08, 2023
Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related.

Rosario Ramos-Mejía, Karen E Heath, Silvia Modamio-Høybjør

|Jun 11, 2022
Challenges in genetic diagnosis, co-occurrence of 22q11.2 deletion syndrome and Noonan syndrome.

Josefina Chinton, Victoria Huckstadt, Maria Eugenia Foncuberta

|Jan 25, 2021
Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.

Victoria Huckstadt, Josefina Chinton, Abel Gomez

|Jan 16, 2021
Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome.

Boris Rebolledo-Jaramillo, Maria Gabriela Obregon, Victoria Huckstadt

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Frequent Collaborators

3 joint publications

Josefina Chinton

2 joint publications

Rosario Ramos-Mejía

2 joint publications

Mariana Del Pino

2 joint publications

Maria Eugenia Foncuberta