Concepedia

Mahdiyeh Behnam

MB

Statistics

Publications

12

Citations

502

H-Index

12

Active since

2014

Affiliations

Isfahan University of Medical Sciences(Current)

Yokohama City University

Yokohama City University Hospital

Tehran University of Medical Sciences

Dr. John T. Macdonald Foundation

Mahdiyeh Behnam is an author at Isfahan University of Medical Sciences specializing in genetics, medical genetics, and human genetics.

ORCID

Publications per year

2014–2023

12

Publications

12

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Morad Ansari, Gemma Poke, Quentin R. V. Ferry et al. · Journal of Medical Genetics · 2014 · 171 citations · Full text

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Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Denise Yan, Demet Tekin, Güney Bademci et al. · Human Genetics · 2016 · 139 citations · Full text

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Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

C Martins, Paula Frassinetti Vasconcelos de Medeiros, Sandra Leistner‐Segal et al. · Human Mutation · 2019 · 26 citations

, , +17

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

Masamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi et al. · Journal of Human Genetics · 2020 · 25 citations

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Novel EYA1 variants causing Branchio-oto-renal syndrome

Kyle D. Klingbeil, Christopher M. Greenland, Selçuk Arslan et al. · International Journal of Pediatric Otorhinolaryngology · 2017 · 23 citations · Full text

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