Kinga Hadzsiev
University of Pecs(HU)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Genomics and Rare Diseases, Neurofibromatosis and Schwannoma Cases
Most-Cited Works
- → Role of carnitine and its derivatives in the development and management of type 2 diabetes(2018)183 cited
- → Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go(2021)167 cited
- → New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy(2020)75 cited
- → Hyponatremia and Sensorineural Hearing Loss in Preterm Infants(2001)66 cited
- → Analysis of the Phenotypes in the Rett Networked Database(2019)47 cited
- → Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps(2008)37 cited
- → Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome(2023)37 cited
- → Partial Trisomy of the Pericentromeric Region of Chromosome 5 in a Girl with Binder Phenotype(2014)37 cited
- → Phenotypic Variants of the Deafness-Associated Mitochondrial DNA A7445G Mutation(2008)34 cited
- → Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype(2017)32 cited