Melegh B

No ORCID on file · 2 papers in corpus · active 2013-2016
2016
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.
Molecular cytogenetics ·doi:10.1186/s13039-016-0231-2

BackgroundKleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with …

2013
Acylcarnitine esters profiling of serum and follicular fluid in patients undergoing in vitro fertilization.
Reproductive biology and endocrinology : RB&E ·doi:10.1186/1477-7827-11-67

BackgroundL-carnitine-mediated beta-oxidation of fatty acids has a well established role in energy supply of oocytes and embryos. Disturbed carnitine metabolism may impair the reproductive potential in IVF and can serve as a biomarker of pr…