1. 18-Year-old patient with Klinefelter syndrome (47, XXY) and complete androgen insensitivity syndrome (CAIS) – case report. (3rd June 2021) Authors: Skalska, Karolina; Ziółkowski, Maciej; Skoczylas, Adrian; Teleon, Marta; Grymowicz, Monika; Pollak, Agnieszka; Smolarczyk, Roman; Płoski, Rafał; Męczekalski, Błażej Journal: Gynecological endocrinology Issue: Volume 37:Number 6(2021) Page Start: 572 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A 23‐year follow‐up of a male with Hajdu‐Cheney syndrome due to NOTCH2 mutation. Issue 11 (17th October 2018) Authors: Midro, Alina T.; Stasiewicz‐Jarocka, Beata; Borys, Jan; Kozłowski, Kazimierz; Skotnicka, Bożena; Tarasów, Eugeniusz; Hubert, Ewa; Konstantynowicz, Jerzy; Panasiuk, Barbara; Rydzanicz, Małgorzata; Pollak, Agnieszka; Stawiński, Piotr; Skowroński, Rafał; Płoski, Rafał Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2382 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy. Issue 11 (27th August 2021) Authors: Rydzanicz, Małgorzata; Zwoliński, Piotr; Gasperowicz, Piotr; Pollak, Agnieszka; Kostrzewa, Grażyna; Walczak, Anna; Konarzewska, Magdalena; Płoski, Rafał Other Names: Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 11(2021) Page Start: 3384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy. Issue 11 (25th September 2017) Authors: Kalinska‐Bienias, Agnieszka; Pollak, Agnieszka; Kowalewski, Cezary; Lechowicz, Urszula; Stawinski, Piotr; Gergont, Aleksandra; Kosinska, Joanna; Pronicka, Ewa; Kowalski, Pawel; Wozniak, Katarzyna; Ploski, Rafal Journal: American journal of medical genetics Issue: Volume 173:Issue 11(2017) Page Start: 3093 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy. Issue 11 (25th September 2017) Authors: Kalinska‐Bienias, Agnieszka; Pollak, Agnieszka; Kowalewski, Cezary; Lechowicz, Urszula; Stawinski, Piotr; Gergont, Aleksandra; Kosinska, Joanna; Pronicka, Ewa; Kowalski, Pawel; Wozniak, Katarzyna; Ploski, Rafal Journal: American journal of medical genetics Issue: Volume 173:Issue 11(2017) Page Start: 3093 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Corrigendum: Next-generation Sequencing Analysis of New Genotypes Appearing During Antiviral Treatment of Chronic Hepatitis C Reveals that These Are Selected from Pre-existing Minor Strains. (11th January 2019) Authors: Bukowska-Ośko, Iwona; Perlejewski, Karol; Caraballo Cortés, Kamila; Pollak, Agnieszka; Berak, Hanna; Pawełczyk, Agnieszka; Horban, Andrzej; Kosińska, Joanna; Płoski, Rafał; Laskus, Tomasz; Radkowski, Marek Journal: Journal of general virology Issue: Volume 100:Number 3(2019) Page Start: 543 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features. Issue 6 (1st March 2018) Authors: Kutkowska-Kaźmierczak, Anna; Rydzanicz, Małgorzata; Chlebowski, Aleksander; Kłosowska-Kosicka, Kamila; Mika, Adriana; Gruchota, Jakub; Jurkiewicz, Elżbieta; Kowalewski, Cezary; Pollak, Agnieszka; Stradomska, Teresa Joanna; Kmieć, Tomasz; Jakubowski, Rafał; Gasperowicz, Piotr; Walczak, Anna; Ślado... Journal: Journal of medical genetics Issue: Volume 55:Issue 6(2018) Page Start: 408 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Evidence Against RAB40AL Being the Locus for Martin–Probst X‐Linked Deafness–Intellectual Disability Syndrome. Issue 10 (7th August 2014) Authors: Ołdak, Monika; Ścieżyńska, Aneta; Młynarski, Wojciech; Borowiec, Maciej; Ruszkowska, Ewelina; Szulborski, Kamil; Pollak, Agnieszka; Kosińska, Joanna; Mueller‐Malesińska, Małgorzata; Stawiński, Piotr; Szaflik, Jacek P.; Płoski, Rafał Journal: Human mutation Issue: Volume 35:Issue 10(2014:Oct.) Page Start: 1171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. Issue 12 (8th September 2016) Authors: Ploski, Rafal; Rydzanicz, Malgorzata; Ksiazczyk, Tomasz M.; Franaszczyk, Maria; Pollak, Agnieszka; Kosinska, Joanna; Michalak, Ewa; Stawinski, Piotr; Ziolkowska, Lidia; Bilinska, Zofia T.; Werner, Bozena Journal: American journal of medical genetics Issue: Volume 170:Issue 12(2016) Page Start: 3241 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot–Marie–Tooth disease. Issue 3 (September 2014) Authors: Kostera‐Pruszczyk, Anna; Kosinska, Joanna; Pollak, Agnieszka; Stawinski, Piotr; Walczak, Anna; Wasilewska, Krystyna; Potulska‐Chromik, Anna; Szczudlik, Piotr; Kaminska, Anna; Ploski, Rafal Journal: Journal of the peripheral nervous system Issue: Volume 19:Issue 3(2014) Page Start: 242 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗