Concepedia

Helen Mecili

HM

Statistics

Publications

1

Citations

20

H-Index

1

Active since

2014

Affiliations

Hôpital d'Hautepierre(Current)

Helen Mecili is an author at Hôpital d'Hautepierre specializing in pathology, pathogenesis, and inherited metabolic disease.

Top concepts

GeneticsMedicinePathologyPathogenesisClinical GeneticsMolecular GeneticsDevelopmental BiologyInherited Metabolic Disease

Publications per year

2014–2014

1

Publications

1

A Novel Mutation in the <b><i>ROGDI</i></b> Gene in a Patient with Kohlschütter-Tönz Syndrome

Mathilde Huckert, Helen Mecili, Virginie Laugel-Haushalter et al. · Molecular Syndromology · 2014 · 20 citations · Full text

Developmental Anomaly, Kohlschütter-tönz Syndrome, Novel Mutation +15

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