Marius‐Ionuţ Iuraşcu

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Aida M. Bertoli‐Avella, Christian Beetz, Najim Ameziane et al. · European Journal of Human Genetics · 2020 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease

Claudia Cozma, Marius‐Ionuţ Iuraşcu, Sabrina Eichler et al. · Scientific Reports · 2017 · 40 citations · Full text

Life Sciences, Biochemistry, Pathobiology +17

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

Tama Dinur, Peter Bauer, Christian Beetz et al. · International Journal of Molecular Sciences · 2022 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Claudia Cozma, Marina Hovakimyan, Marius‐Ionuţ Iuraşcu et al. · Orphanet Journal of Rare Diseases · 2019 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

Pilar Guatibonza Moreno, Luba M. Pardo, Catarina Pereira et al. · European Journal of Human Genetics · 2023 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17