Concepedia
Statistics
Publications
4
Citations
141
H-Index
Active since
2014
Affiliations
University Hospital Centre Zagreb(Current)
University of Zagreb
University Medical Center Freiburg
Hochschule Bonn-Rhein-Sieg
University Children's Hospital Zurich
Karmen Bilić is an author at University Hospital Centre Zagreb specializing in life sciences, genetic disorders, and genetics.
Publications per year
2014–2017
ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency
Jayson Lian, Mario Ćuk, Lina Kozhaya et al. · Journal of Allergy and Clinical Immunology · 2017 · 93 citations · Full text
Life Sciences, Genetics, Molecular Biology +12
Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis
Shanti Balasubramaniam, B. Lewis, Lawrence Greed et al. · JIMD Reports · 2015 · 26 citations · Full text
Life Sciences, Molecular Genetics, Pediatrics +15
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families
Jörn Oliver Sass, Corinne Gemperle-Britschgi, Maja Tarailo‐Graovac et al. · Molecular Genetics and Metabolism · 2016 · 12 citations
Life Sciences, Genetics, Molecular Genetics +5
Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy
Jana Haberlová, Zoran D. Mitrović, K. Žarković et al. · Neuromuscular Disorders · 2014 · 10 citations
Medicine, Neurology, Psychiatry +7
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