Concepedia

Helena Fryssira

HF

Statistics

Publications

8

Citations

330

H-Index

8

Active since

2002

Affiliations

National and Kapodistrian University of Athens(Current)

Children's Hospital Agia Sophia

Inserm

Centro de Investigación Biomédica en Red

Helena Fryssira is an author at National and Kapodistrian University of Athens specializing in genetic disorders, human genetics, and genetics.

Publications per year

2002–2016

8

Publications

8

<i>PRKAR1A</i>and<i>PDE4D</i>Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance

Agnès Linglart, Helena Fryssira, Olaf Hiort et al. · The Journal of Clinical Endocrinology & Metabolism · 2012 · 111 citations · Full text

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The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

M. Reza Sailani, Periklis Makrythanasis, Armand Valsesia et al. · Genome Research · 2013 · 82 citations · Full text

, , +17

Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.

S. Kitsiou‐Tzeli, A Kolialexi, Helena Fryssira et al. · PubMed · 2005 · 41 citations

, , +15

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications

Vasilis Oikonomakis, Konstantina Kosma, Anastasios Mitrakos et al. · Clinical Genetics · 2016 · 36 citations

, , +17

Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited

Paraskevi Karagianni, Vassilios Lambropoulos, Dorothea Stergidou et al. · American Journal of Medical Genetics Part A · 2016 · 20 citations

, , +13

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