1. Applications of nanodosimetry in particle therapy planning and beyond. (10th December 2021) Authors: Rucinski, Antoni; Biernacka, Anna; Schulte, Reinhard Journal: Physics in medicine & biology Issue: Volume 66:Number 24(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Correlation of cytopathology with flow cytometry and histopathology for the diagnosis of hematologic malignancies in young adults presenting with cervical lymphadenopathy. Issue 6 (22nd February 2019) Authors: Choy, Bonnie; Venkataraman, Girish; Biernacka, Anna; Lastra, Ricardo R.; Mueller, Jeffery; Setia, Namrata; Reeves, Ward; Antic, Tatjana Journal: Diagnostic cytopathology Issue: Volume 47:Issue 6(2019) Page Start: 579 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation. Issue 3 (2nd August 2018) Authors: Pilch, Jacek; Koppolu, Agnieszka A.; Walczak, Anna; Murcia Pienkowski, Victor A.; Biernacka, Anna; Skiba, Paweł; Machnik‐Broncel, Joanna; Gasperowicz, Piotr; Kosińska, Joanna; Rydzanicz, Małgorzata; Emich‐Widera, Ewa; Płoski, Rafał Journal: Clinical genetics Issue: Volume 94:Issue 3/4(2018) Page Start: 381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Fine‐needle aspiration of dermatofibrosarcoma protuberans metastasizing to hemithorax with superior vena cava compression: Case report and literature review. Issue 8 (27th March 2019) Authors: Banach, Bridget S.; Antic, Tatjana; Bridge, Julia A.; Cipriani, Nicole A.; Frye, Laura; Krausz, Thomas N.; Biernacka, Anna Journal: Diagnostic cytopathology Issue: Volume 47:Issue 8(2019) Page Start: 797 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. (13th August 2018) Authors: Smigiel, Robert; Sherman, Diane L; Rydzanicz, Małgorzata; Walczak, Anna; Mikolajkow, Dorota; Krolak-Olejnik, Barbara; Kosińska, Joanna; Gasperowicz, Piotr; Biernacka, Anna; Stawinski, Piotr; Marciniak, Malgorzata; Andrzejewski, Witalij; Boczar, Maria; Krajewski, Paweł; Sasiadek, Maria M; Brophy, ... Journal: Human molecular genetics Issue: Volume 27:Number 21(2018:Nov. 01) Page Start: 3669 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. I-BLESS is an ultra-sensitive method for detection of DNA double-strand breaks. (December 2018) Authors: Biernacka, Anna; Zhu, Yingjie; Skrzypczak, Magdalena; Forey, Romain; Pardo, Benjamin; Grzelak, Marta; Nde, Jules; Mitra, Abhishek; Kudlicki, Andrzej; Crosetto, Nicola; Pasero, Philippe; Rowicka, Maga; Ginalski, Krzysztof Journal: Communications biology Issue: Volume 1:Number 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders. Issue 2 (23rd October 2018) Authors: Murcia Pienkowski, Victor; Kucharczyk, Marzena; Młynek, Marlena; Szczałuba, Krzysztof; Rydzanicz, Małgorzata; Poszewiecka, Barbara; Skórka, Agata; Sykulski, Maciej; Biernacka, Anna; Koppolu, Agnieszka Anna; Posmyk, Renata; Walczak, Anna; Kosińska, Joanna; Krajewski, Paweł; Castaneda, Jennifer; Ob... Journal: Journal of medical genetics Issue: Volume 56:Issue 2(2019) Page Start: 104 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines. Issue 6 (11th October 2018) Authors: Szczałuba, Krzysztof; Chmielewska, Joanna J.; Sokolowska, Olga; Rydzanicz, Małgorzata; Szymańska, Krystyna; Feleszko, Wojciech; Włodarski, Paweł; Biernacka, Anna; Murcia Pienkowski, Victor; Walczak, Anna; Bargeł, Elżbieta; Królewczyk, Katarzyna; Nowacka, Agata; Stawiński, Piotr; Nowis, Dominika; ... Journal: Clinical genetics Issue: Volume 94:Issue 6(2018) Page Start: 581 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel COL12A1 variant as a cause of mild familial extracellular matrix‐related myopathy. Issue 6 (28th March 2019) Authors: Jezela‐Stanek, Aleksandra; Walczak, Anna; Łaźniewski, Michał; Kosińska, Joanna; Stawiński, Piotr; Murcia Pienkowski, Victor; Biernacka, Anna; Rydzanicz, Małgorzata; Kostrzewa, Grażyna; Krajewski, Paweł; Plewczyński, Dariusz; Płoski, Rafał Journal: Clinical genetics Issue: Volume 95:Issue 6(2019) Page Start: 736 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Phenotype of two Polish patients with Schaaf–Yang syndrome confirmed by identifying mutation in MAGEL2 gene. Issue 2 (April 2018) Authors: Matuszewska, Karolina E.; Badura-Stronka, Magdalena; Śmigiel, Robert; Cabała, Magdalena; Biernacka, Anna; Kosinska, Joanna; Rydzanicz, Malgorzata; Winczewska-Wiktor, Anna; Sasiadek, Maria; Latos-Bieleńska, Anna; Żemojtel, Tomasz; Płoski, Rafal Journal: Clinical dysmorphology Issue: Volume 27:Issue 2(2018:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗