Kinga Hadzsiev

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Tamara Dangouloff, Eva Vrščaj, Laurent Servais et al. · Neuromuscular Disorders · 2021 · 164 citations

Early Diagnosis, Rare Diseases, Newborn Screening +7

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Jorge Alonso‐Pérez, Lidia González‐Quereda, Luca Bello et al. · Brain · 2020 · 74 citations · Full text

Genetic Epidemiology, Human Polymorphism, Pathology +29

Hyponatremia and Sensorineural Hearing Loss in Preterm Infants

Tibor Ertl, Kinga Hadzsiev, Olga Vincze et al. · Neonatology · 2001 · 66 citations

Analysis of the Phenotypes in the Rett Networked Database

Elisa Frullanti, Filomena Tiziana Papa, Elisa Grillo et al. · International Journal of Genomics · 2019 · 47 citations · Full text

Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps

Éva Morava, H N Wosik, Judit Kárteszi et al. · Journal of Inherited Metabolic Disease · 2008 · 37 citations · Full text