• 3203 Citations
  • 30 h-Index
1975 …2019
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Fingerprint Dive into the research topics where L. Sztriha is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 16 Similar Profiles
Mutation Medicine & Life Sciences
Microcephaly Medicine & Life Sciences
Lissencephaly Medicine & Life Sciences
Seizures Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Kainic Acid Medicine & Life Sciences
Agenesis of Corpus Callosum Medicine & Life Sciences
Genes Medicine & Life Sciences

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Research Output 1975 2019

  • 3203 Citations
  • 30 h-Index
  • 144 Article
  • 1 Conference contribution
  • 1 Review article

A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature

Zombor, M., Kalmár, T., Nagy, N., Berényi, M., Telcs, B., Maróti, Z., Brandau, O. & Sztriha, L., Jan 1 2019, In : Journal of Applied Genetics.

Research output: Contribution to journalReview article

Microcephaly
Missense Mutation
Mutation
Lissencephaly
Genes

Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability

Zombor, M., Kalmár, T., Maróti, Z., Zimmermann, A., Máté, A., Bereczki, C. & Sztriha, L., Jan 1 2018, (Accepted/In press) In : Journal of Human Genetics.

Research output: Contribution to journalArticle

Megalencephaly
Agenesis of Corpus Callosum
Intellectual Disability
Mutation
Septum Pellucidum
45 Citations (Scopus)

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

Kodani, A., Yu, T. W., Johnson, J. R., Jayaraman, D., Johnson, T. L., Al-Gazali, L., Sztriha, L., Partlow, J. N., Kim, H., Krup, A. L., Dammermann, A., Krogan, N. J., Walsh, C. A. & Reiter, J. F., Aug 22 2015, In : eLife. 4, AUGUST2015, e07519.

Research output: Contribution to journalArticle

Centrioles
Microcephaly
Satellites
Centrosome
Proteins