• 10634 Citations
  • 39 h-Index
1983 …2019
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Fingerprint Dive into the research topics where B. Melegh is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 30 Similar Profiles
Carnitine Medicine & Life Sciences
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Hungary Medicine & Life Sciences
Alleles Medicine & Life Sciences
Genotype Medicine & Life Sciences
Spinocerebellar Ataxias Medicine & Life Sciences
Roma Medicine & Life Sciences

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Research Output 1983 2019

  • 10634 Citations
  • 39 h-Index
  • 300 Article
  • 4 Chapter
  • 2 Comment/debate
  • 1 Review article

A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F

Care4Rare Canada Consortium, Jan 1 2019, In : European Journal of Medical Genetics. 103662.

Research output: Contribution to journalArticle

Limb-Girdle Muscular Dystrophies
Muscles
Exome
Muscular Dystrophies
Electromyography

Generalizált epilepszia hátterében azonosított ioncsatorna-génmutáció ritka formája

Translated title of the contribution: A rare form of ion channel gene mutation identified as underlying cause of generalized epilepsyÁgnes, T., Renáta, S., Márta, H., Erzsébet, K., Gergely, B., Kinga, H. & Melegh, B., May 1 2019, In : Orvosi hetilap. 160, 21, p. 835-838 4 p.

Research output: Contribution to journalArticle

Open Access
Generalized Epilepsy
Ion Channels
Epilepsy
Neurocutaneous Syndromes
Hypopigmentation
1 Citation (Scopus)

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

Schrauwen, I., Melegh, B., Chakchouk, I., Acharya, A., Nasir, A., Poston, A., Cornejo-Sanchez, D. M., Szabo, Z., Karosi, T., Bene, J., Melegh, B. & Leal, S. M., Jan 1 2019, In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Roma
Dominant Genes
Hearing Loss
Inner Auditory Hair Cells
Hearing