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Mariann Tihanyi

Observed name: Tihanyi, Mariann
OpenAlex ID: A5089887461
Targeted Sequence Capture and High-Throughput Sequencing in the Molecular Diagnosis of Ichthyosis and Other Skin Diseases
2012 · Claire A. Scott, Vincent Plagnol, et al. · Journal of Investigative Dermatology · 36
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Clinical and genetic characteristics of craniosynostosis in Hungary
2015 · Beáta Bessenyei, Andrea Nagy, et al. · American Journal of Medical Genetics Part A · 16
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation
2014 · Beáta Bessenyei, Mariann Tihanyi, et al. · American Journal of Medical Genetics Part A · 13
Delineating the genetic heterogeneity of OCA in Hungarian patients
2017 · Beáta Fábos, Katalin Farkas, et al. · European journal of medical research · 9
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Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature
2020 · Anna Lengyel, Éva Pinti, et al. · European Journal of Medical Genetics · 7
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Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy
2023 · Judit Kárteszi, Alban Ziegler, et al. · American Journal of Medical Genetics Part A · 4
A Hyperparathyreosis 2 gén új mutációi látszólag sporadikus előfordulású hyperparathyreosis-állkapocstumor szindrómában
2013 · Nyírő, Gábor, Patócs, Attila Balázs, et al. · Repository of the Academy's Library (Library of the Hungarian Academy of Sciences)
Works count: 7
Citation count: 85
H-index: 5
I10-index: 3
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