The Impact of Next Generation Sequencing in Diagnosis and Management of Rare Diseases: Bloom Syndrome by Ina-Ofelia FOCSA, Andreea TUTULAN-CUNITA, Anca PAVEL, Diana PREPELITA, Diana BRATU, Laurentiu Camil BOHILTEA, Danae STAMBOULI

Get full text

Clinical Aspects of a Rare Disease: Bardet Biedl Syndrome by Ina Ofelia FOCSA, Magdalena BUDISTEANU, Cristina STOICA, Florina NEDELEA, Claudia JURCA, Lavinia CABA, Lacramioara BUTNARIU, Monica PANZARU, Cristina RUSU, Mihaela BALGRADEAN

Get full text

Epileptic Encephalopathy Related to CAD Deleterious Variants—A Case Series by Adelina Glangher, Magdalena Budișteanu, Diana Bârcă, Dana Șurlică, Florentina Ionela Lincă, Doina Ioana, Laurentiu-Camil Bohîlțea, Ina-Ofelia Focșa, Catrinel Iliescu

Get full text

Age-Onset-Related Particularities of Pediatric MS—Understanding the Spectrum: A Tertiary Center Experience by Alice Denisa Dică, Dana Craiu, Florentina Ionela Linca, Magdalena Budișteanu, Catrinel Iliescu, Carmen Sandu, Cristina Pomeran, Diana Bârcă, Niculina Butoianu, Carmen Burloiu, Ioana Minciu, Ina Ofelia Focșa, Dana Surlică, Oana Tarța-Arsene, Cristina Cazacu, Andreea Badea, Alexandru Stefan Niculae, Daniela Adriana Ion

Get full text