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Giovanna Aschettino
Institution:
Garrahan Hospital
Observed institution:
Garrahan Hospital
ORCID:
0000-0001-7251-7656
Observed ORCID:
0000-0001-7251-7656
OpenAlex ID:
A5084964994
Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina
2025
·
María Eugenia Martín
, Lenin Intriago
, et al.
·
Seizure
·
2
Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.
2022
·
Matías Juanes
, Mariana Loos
, et al.
·
PubMed
·
2
WWOX-related developmental and epileptic encephalopathy (WOREE): A case series of seven patients from Argentina
2026
·
Jose Guevara
, Maria Sol Touzon
, et al.
·
Seizure
Expanding the genotypic landscape of the neuronal ceroid lipofuscinoses: clinical and molecular findings from a tertiary-care center in Argentina
2026
·
María Sol Touzon
, Gabriela Reyes Valenzuela
, et al.
·
Seizure
NAXD Encephalopathy Mimicking Neuroinflammatory Disease
2025
·
Rocio Victoria Garcia
, Hilda Verónica Aráoz
, et al.
·
American Journal of Medical Genetics Part A
SAT-203 Methylation Status of Growth Hormone Receptor (GHR), Insulin-like Growth Factor 1 Receptor (IGF1R) and Insulin Receptor (INSR) in Small for Gestational Age (SGA) Boys without Catch-up Growth
2025
·
Luciana Zoff
, Francisco M Garcia
, et al.
·
Journal of the Endocrine Society
PDF
SAT-202 DNA Methylation Changes in the GHR, IGF1R and INSR Genes in Foreskin from 46,XY DSD Children Born Adequate (AGA) or Small for Gestational Age (SGA)
2025
·
Luciana Zoff
, Francisco M Garcia
, et al.
·
Journal of the Endocrine Society
PDF
SAT-202 DNA Methylation Changes in the GHR, IGF1R and INSR Genes in Foreskin from 46,XY DSD Children Born Adequate (AGA) or Small for Gestational Age (SGA)
2025
·
Luciana Zoff
, Francisco M Garcia
, et al.
·
Journal of the Endocrine Society
PDF
THU157 Epigenetic Regulation Of Genes Involved In The Signaling Cascade Of The GH Axis - IGF1 And Insulin. Implication In Children Postnatal Growth
2023
·
Luciana Zoff
, Francisco Garcia
, et al.
·
Journal of the Endocrine Society
PDF
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Works count:
9
Citation count:
4
H-index:
2
I10-index:
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