Irina Resmerita
Biographic Data
| ID | 8260303 |
|---|---|
| NAME | Irina Resmerita |
| GIVEN NAMES | Irina |
| FAMILY NAME | Resmerita |
| SIGNATURE | RESMERITA I |
| AFFILIATIONS | Grigore T. Popa University of Medicine and Pharmacy |
| ORCID | 0000-0002-7518-4049 |
| VERIFIED | Yes |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2021 |
| LATEST PUBLICATION YEAR | 2021 |
| H-INDEX | 0 |
Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. The clinical aspects are dependent on the deletion' size. Our aim was to identify rare specific characteristics in a cohort of seven cases with 4p deletion and to assess the utility of Multiplex ligation…
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Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. The clinical aspects are dependent on the deletion' size. Our aim was to identify rare specific characteristics in a cohort of seven cases with 4p deletion and to assess the utility of Multiplex ligation…
Biology (1 work) · Fetal and Pediatric Neurological Disorders (1 work) · Genetic testing (1 work) · Genetics (1 work) · Genomic variations and chromosomal abnormalities (1 work) · Hypotonia (1 work) · Intellectual disability (1 work) · Internal Medicine (1 work) · Medicine (1 work) · Multiplex ligation-dependent probe amplification (1 work)