| Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical … E Pronicka, E Ciara, P Halat, A Janiec, M Wójcik, E Rowińska, D Rokicki, ... Journal of applied genetics 58, 349-353, 2017 | 93 | 2017 |
| Advances in genetic hearing loss: CIB2 gene A Jacoszek, A Pollak, R Płoski, M Ołdak European Archives of Oto-Rhino-Laryngology 274, 1791-1795, 2017 | 20 | 2017 |
| A de novo loss‐of‐function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa. K Szczałuba, M Rydzanicz, A Walczak, J Kosińska, A Jacoszek, ... Clinical Genetics 93 (5), 2018 | 5 | 2018 |
| CIB2 gene in the pathogenesis of hearing loss-results of pooled DNA high throughput sequencing A Pollak, J Gzik, A Jacoszek, U Lechowicz, P Stawinski, R Ploski, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 46-46, 2019 | | 2019 |
| Mutational spectrum of CYP24A1 and SLC34A1 genes in a group of Polish patients with idiopathic infantile hypercalcemia P Halat, E Ciara, A Janiec, M Rydzanicz, J Kosinska, P Stawinski, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 295-295, 2018 | | 2018 |
| A novel GNAO1 mutation in a patient with severe movement disorder D Piekutowska-Abramczuk, H Mierzewska, E Ciara, J Trubicka, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 443-444, 2018 | | 2018 |
