Maria E. Foncuberta

Hospital De Pediatría Prof Dr. Juan P Garrahan
B, Argentina

Last Updated: 09/26/2026

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Found 9 publications

Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina.

Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina.

Journal: Seizure

Published: November 05, 2024

A novel deep intronic variant in the DMD gene causes Duchenne muscular dystrophy by pseudoexon activation encoding a nonsense codon.

A novel deep intronic variant in the DMD gene causes Duchenne muscular dystrophy by pseudoexon activation encoding a nonsense codon.

Journal: Gene

Published: May 13, 2024

Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.

Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.

Journal: Medicina

Published: December 26, 2022

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

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

Journal: American journal of medical genetics. Part A

Published: February 02, 2022

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Journal: Journal of neuromuscular diseases

Published: November 11, 2017

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

Journal: Human mutation

Published: November 18, 2014

Pharmacogenetic studies in children with acute lymphoblastic leukemia in Argentina.

Pharmacogenetic studies in children with acute lymphoblastic leukemia in Argentina.

Journal: Leukemia & lymphoma

Published: August 12, 2014

Change in prevalence of congenital defects in children with Prader-Willi syndrome.

Change in prevalence of congenital defects in children with Prader-Willi syndrome.

Journal: Pediatrics

Published: January 09, 2013

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Journal: PloS one

Published: December 14, 2012

Showing 1-9 of 9

Last Updated: 09/26/2026