A. Dica

Intellectual disability and epilepsy in down syndrome.

M. Budisteanu, D. Barca, O. Tarta-Arsene, 2014, Maedica.

Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania

M. Budisteanu, S. Papuc, D. Barca, 2021, Experimental and therapeutic medicine.

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2016, European Journal of Human Genetics.

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.

A. Rolfs, A. Dica, C. Iliescu, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.

E. Bertini, F. Aarsen, L. de Meirleir, 2019, The lancet. Diabetes & endocrinology.

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.

E. Bertini, N. Brunetti‐Pierri, M. Polak, 2020, The lancet. Diabetes & endocrinology.

Expanding the clinical spectrum of biallelic ZNF335 variants

C. Walsh, S. Seneca, A. Stergachis, 2018, Clinical genetics.

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.

S. Seneca, L. de Meirleir, A. Jansen, 2018, European journal of medical genetics.

Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report

A. Dica, E. Bratila, A. Nicolescu, 2023, Medicina.

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.

A. Rolfs, A. Dica, C. Iliescu, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.