Kinga Kozma

1 December Sq
Oradea, BH 410081, Romania

Last Updated: 09/26/2026

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Found 15 publications

Epilepsy, Cognitive, and Behavioral Outcomes in Neurocutaneous Syndromes: A Comparative Review of NF1, TSC, and Sturge-Weber Syndrome.

Epilepsy, Cognitive, and Behavioral Outcomes in Neurocutaneous Syndromes: A Comparative Review of NF1, TSC, and Sturge-Weber Syndrome.

Journal: Children (Basel, Switzerland)

Published: May 30, 2026

Familial Mediterranean fever in Romania: a case report and literature review.

Familial Mediterranean fever in Romania: a case report and literature review.

Journal: Frontiers in pediatrics

Published: December 16, 2024

Thrombosis in Children: A Retrospective Study from a Single-center Database.

Thrombosis in Children: A Retrospective Study from a Single-center Database.

Journal: In vivo (Athens, Greece)

Published: October 01, 2024

Evaluating Therapy and Growth in Children with Phenylketonuria: A Retrospective Longitudinal Study from Two Romanian Centers.

Evaluating Therapy and Growth in Children with Phenylketonuria: A Retrospective Longitudinal Study from Two Romanian Centers.

Journal: Medicina (Kaunas, Lithuania)

Published: June 26, 2024

PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania.

PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania.

Journal: Diagnostics (Basel, Switzerland)

Published: February 09, 2023

Tuberous Sclerosis, Type II Diabetes Mellitus and the PI3K/AKT/mTOR Signaling Pathways-Case Report and Literature Review.

Tuberous Sclerosis, Type II Diabetes Mellitus and the PI3K/AKT/mTOR Signaling Pathways-Case Report and Literature Review.

Journal: Genes

Published: December 29, 2022

Effects of Burosumab Treatment on Two Siblings with X-Linked Hypophosphatemia. Case Report and Literature Review.

Effects of Burosumab Treatment on Two Siblings with X-Linked Hypophosphatemia. Case Report and Literature Review.

Journal: Genes

Published: July 19, 2022

Cardiofaciocutaneous syndrome - a longitudinal study of a case over 33 years: case report and review of the literature.

Cardiofaciocutaneous syndrome - a longitudinal study of a case over 33 years: case report and review of the literature.

Journal: Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie

Published: January 13, 2022

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review.

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review.

Journal: Genes

Published: September 18, 2021

Genetics of congenital solid tumors.

Genetics of congenital solid tumors.

Journal: Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie

Published: June 25, 2021

Double autosomal trisomy with mosaicism 47,XY(+8)∕47,XY(+21). Morphological and genetic changes of a rare case.

Double autosomal trisomy with mosaicism 47,XY(+8)∕47,XY(+21). Morphological and genetic changes of a rare case.

Journal: Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie

Published: December 12, 2018

Clinical and genetic diversity of congenital hyperammonemia.

Clinical and genetic diversity of congenital hyperammonemia.

Journal: Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie

Published: December 12, 2018

Showing 1-12 of 15

Last Updated: 09/26/2026