Emilia Severin

15PUBLICATIONS
17CO-AUTHORS
Neurology and neuromuscular diseasesNeonatologyDevelopmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Solid tumours
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Publications (15)

|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

|May 14, 2025
Tuberous Sclerosis Complex: A Case Series from a Romanian Genetics Center and a Review of the Literature.

Aurora Alexandra Jurca, Ramona Hodisan, Alexandru Daniel Jurca

|Apr 12, 2025
Lost in Transition: Challenges in the Journey from Pediatric to Adult Care for a Romanian DMD Patient.

Maria Lupu, Maria-Alexandra Marcu, Diana Anamaria Epure

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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