Concepedia

Konstantina Kosma

KK

16

Publications

1.4K

Citations

13

H-Index

2004

Active since

Affiliations

National and Kapodistrian University of Athens(Current)

Children's Hospital Agia Sophia

University Hospital Centre Zagreb

University of Zagreb

University of Calgary

Konstantina Kosma is an author at National and Kapodistrian University of Athens specializing in medicine, genetics, and pathology.

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Publications per year

2004–2023

16

Publications

16

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Catherine L. Bladen, David Salgado, Soledad Monges et al. · Human Mutation · 2015 · 717 citations · Full text

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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

Zaïda Koeks, Catherine L. Bladen, David Salgado et al. · Journal of Neuromuscular Diseases · 2017 · 171 citations · Full text

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Jason O'Rawe, Yiyang Wu, Max J. Dörfel et al. · The American Journal of Human Genetics · 2015 · 125 citations · Full text

Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders

Nikolaos M. Marinakis, Maria Svingou, Danai Veltra et al. · American Journal of Medical Genetics Part A · 2021 · 47 citations

Distribution of serum lipids and lipoproteins in patients with beta thalassaemia major; an epidemiological study in young adults from Greece.

Christina Chrysohoou, Demosthenes B. Panagiotakos, Christos Pitsavos et al. · Lipids in Health and Disease · 2004 · 45 citations · Full text

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