Maria G. Puiu

2 Iosif Nemoianu St
Timisoara, TM 300011, Romania

Last Updated: 09/26/2026

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Found 75 publications

Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.

Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.

Journal: International journal of molecular sciences

Published: December 30, 2025

The CTDP1 Founder Variant in CCFDN: Insights into Pathogenesis, Phenotypic Spectrum and Therapeutic Approaches.

The CTDP1 Founder Variant in CCFDN: Insights into Pathogenesis, Phenotypic Spectrum and Therapeutic Approaches.

Journal: International journal of molecular sciences

Published: November 11, 2025

Patient-centered and coordinated therapy with RNA interference-based givosiran for acute hepatic porphyria: real-life experience for an ultra-rare disease from Romania.

Patient-centered and coordinated therapy with RNA interference-based givosiran for acute hepatic porphyria: real-life experience for an ultra-rare disease from Romania.

Journal: Blood science (Baltimore, Md.)

Published: September 23, 2025

Snapshot Look at Castleman Disease.

Snapshot Look at Castleman Disease.

Journal: Journal of cellular and molecular medicine

Published: August 11, 2025

Clinical Characteristics and Prognosis of Patients with End-Stage Hypertrophic Cardiomyopathy from a Tertiary Center Cohort: Systolic Dysfunction and Advanced Diastolic Dysfunction.

Clinical Characteristics and Prognosis of Patients with End-Stage Hypertrophic Cardiomyopathy from a Tertiary Center Cohort: Systolic Dysfunction and Advanced Diastolic Dysfunction.

Journal: Diagnostics (Basel, Switzerland)

Published: April 07, 2025

Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.

Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.

Journal: International journal of molecular sciences

Published: March 30, 2025

Vitamin D and depression in adults: A systematic review.

Vitamin D and depression in adults: A systematic review.

Journal: Biomolecules & biomedicine

Published: March 05, 2025

Theoretical Models and Simulations of Gene Delivery with Polyurethane: The Importance of Polyurethane as a Vector in Personalized Therapy.

Theoretical Models and Simulations of Gene Delivery with Polyurethane: The Importance of Polyurethane as a Vector in Personalized Therapy.

Journal: Biomedicines

Published: February 21, 2025

Nephrogenic Diabetes Insipidus Affecting Three Males in Two Generations-Case Report and Review of the Literature.

Nephrogenic Diabetes Insipidus Affecting Three Males in Two Generations-Case Report and Review of the Literature.

Journal: Children (Basel, Switzerland)

Published: January 06, 2025

Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the AMHR2 Gene and Literature Review.

Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the AMHR2 Gene and Literature Review.

Journal: Diagnostics (Basel, Switzerland)

Published: September 26, 2024

Factors associated with the revolving door phenomenon in patients with schizophrenia: results from an acute psychiatric hospital in Romania.

Factors associated with the revolving door phenomenon in patients with schizophrenia: results from an acute psychiatric hospital in Romania.

Journal: Frontiers in psychiatry

Published: September 15, 2024

A Systematic Review of Resilience in At-Risk Youth for Psychotic Disorders: An Analysis of Protective and Risk Factors from Recent Literature.

A Systematic Review of Resilience in At-Risk Youth for Psychotic Disorders: An Analysis of Protective and Risk Factors from Recent Literature.

Journal: Behavioral sciences (Basel, Switzerland)

Published: July 29, 2024

Showing 1-12 of 75

Last Updated: 09/26/2026