Emilia Severin

17PUBLICATIONS
20CO-AUTHORS
Medical mycologyNeurology and neuromuscular diseasesNeonatologyDevelopmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)
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Publications (17)

|Sep 15, 2026
A Tarui Disease Phenotype with Compensated Hemolysis and a Homozygous PFKM Variant of Uncertain Significance Mimicking Chronic Myelomonocytic Leukemia.

|Aug 27, 2026
Clinical Phenotypic Spectrum and Multisystem Burden in Neurofibromatosis Type 1: A Retrospective Regional Cohort Study.

|Jul 28, 2026
Epilepsy, Cognitive, and Behavioral Outcomes in Neurocutaneous Syndromes: A Comparative Review of NF1, TSC, and Sturge-Weber Syndrome.

|Apr 14, 2026
A Pediatric Case of Neurodevelopmental Delay with a Familial H4C11 Variant: Clinical Course and Diagnostic Challenges.

Elena Tudorache, Andreea Giurgiuveanu, Emilia Severin

|Feb 27, 2026
Prenatal Diagnosis of Sex Chromosome Aneuploidies: A Retrospective Study Using QF-PCR, SNP-Based Chromosomal Microarray Analysis, and NIPT.

Irina Ioana Iordanescu, Andreea Catana, Zina Barabas Cuzmici

|Aug 28, 2025
FMR1 Methylation Pattern and Repeat Expansion Screening in a Cohort of Boys with Autism Spectrum Disorders: Correlation of Genetic Findings with Clinical Presentations.

Maria Dobre, Gisela Gaina, Alina Erbescu

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Frequent Collaborators

5 joint publications

Codruta Diana Petchesi

2 joint publications

Maria Lupu

2 joint publications

Raluca Ioana Teleanu

2 joint publications

Cosmin Vesa