M. Mager

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries

A. Ferlini, M. Neri, D. Vlodavets, 2020, Neurology Genetics.

One Molecule for Mental Nourishment and More: Glucose Transporter Type 1—Biology and Deficiency Syndrome

R. Vulturar, A. Chiș, O. Orasan, 2022, Biomedicines.

Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability

A. Chiriță-Emandi, M. Puiu, R. Popp, 2021, Italian Journal of Pediatrics.

Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review

A. Trifa, D. Anton-Păduraru, L. Sur, 2023, Children.

Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability

M. Farcas, C. Lazea, T. Pop, 2021, International journal of general medicine.

A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population.

B. Thöny, R. Vulturar, D. Anton-Păduraru, 2016, Gene.