Concepedia
Statistics
Publications
5
Citations
208
H-Index
Active since
2017
Affiliations
University of Würzburg(Current)
St George's, University of London
Université Paris Cité
University of Tübingen
Inserm
Caroline Lekszas is an author at University of Würzburg specializing in pathology, medicine, and fibrosis.
Top concepts
MedicinePathologyFibrosisGeneticsCell BiologyCell SignalingGene ExpressionSystems BiologyNatural SciencesMolecular Medicine
Publications per year
2017–2021
Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion
Caroline Lekszas, Ombretta Foresti, Ishier Raote et al. · eLife · 2020 · 74 citations · Full text
Pathology, Disease Gene Identification, Full Length Tango1 +21
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
Johanne Dubail, Céline Huber, Sandrine Chantepie et al. · Nature Communications · 2018 · 69 citations · Full text
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia
Ariana Kariminejad, Emmanuelle Szenker‐Ravi, Caroline Lekszas et al. · The American Journal of Human Genetics · 2019 · 26 citations · Full text
Genetics, Posterior Amelia, Pathology +3
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
Alban Ziegler, Rémi Duclaux‐Loras, Céline Revenu et al. · The American Journal of Human Genetics · 2021 · 23 citations · Full text
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family
Barbara Vona, Reza Maroofian, Geetu Mendiratta et al. · Molecular Syndromology · 2017 · 16 citations · Full text
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