Concepedia

Ján Miertuš

JM

Statistics

Publications

4

Citations

208

H-Index

4

Active since

2006

Affiliations

Istituti di Ricovero e Cura a Carattere Scientifico(Current)

University of Chieti-Pescara

Università Cattolica del Sacro Cuore

Agostino Gemelli University Polyclinic

Ján Miertuš is an author at Istituti di Ricovero e Cura a Carattere Scientifico specializing in developmental biology, medicine, and genetics.

Top concepts

Publications per year

2006–2023

4

Publications

4

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

Anne Michalk, Sigmar Stricker, Jutta Becker et al. · The American Journal of Human Genetics · 2008 · 139 citations · Full text

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A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome

Ján Miertuš, Wiktor Borozdin, Vladimı́r Frecer et al. · Human Genetics · 2006 · 43 citations

, , +9

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations

Francesca Cristofoli, Muharrem Daja, Paolo Enrico Maltese et al. · Genes · 2023 · 15 citations · Full text

Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting

Francesca Cristofoli, Elisa Sorrentino, Giulia Guerri et al. · Genes · 2021 · 11 citations · Full text

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