Henriett Pikó
Semmelweis University(HU)HUN-REN Institute of Experimental Medicine(HU)Hungarian Research Network(HU)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Muscle Physiology and Disorders, RNA Research and Splicing, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia(2014)155 cited
- → Validation of the United Kingdom copy-number alteration classifier in 3239 children with B-cell precursor ALL(2019)65 cited
- → Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families – Detection of carrier status in symptomatic and asymptomatic female relatives(2008)30 cited
- → The Role of the Vaginal and Endometrial Microbiomes in Infertility and Their Impact on Pregnancy Outcomes in Light of Recent Literature(2024)27 cited
- → Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy(2006)26 cited
- → Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure(2013)24 cited