Publikacje w czasopismach z "listy filadelfijskiej" (z trzech ostatnich lat):

1. Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome - Marbach Felix, LIPSKA-ZIĘTKIEWICZ BEATA S., KNUROWSKA AGATA, Michaud Vincent, Margot Henri, Lespinasse James, Tran Mau Them Frédéric, Coubes Christine, Park Joohyun, Grosch Sarah, Roggia Cristiana, Grasshoff Ute, Kalsner Louisa, Denommé-Pichon Anne-Sophie, Afenjar Alexandra, Héron Bénédicte, Keren Boris, Caro Pilar, Schaaf Christian P.. - Am. J. Med. Genet. A - 2022 : vol. 188, nr 9, s. 2627-2636, bibliogr. [21] poz., streszcz. ang.
2. European experts consensus : BRCA/homologous recombination deficiency testing in first-line ovarian cancer - Vergote I., González-Martín A., Ray-Coquard I., Harter P., Colombo N., Pujol P., Lorusso D., Mirza M.R., Brasiuniene B., Madry R., Brenton J.D., Ausems M.G.E.M., Büttner R., Lambrechts D., , WASĄG BARTOSZ. - Ann. Oncol. - 2022 : vol. 33, nr 3, s. 276-287, bibliogr. 74 poz., streszcz. ang.
3. Antimicrobial potential of the genera Geobacillus and Parageobacillus, as well as endolysins biosynthesized by their bacteriophages - Zebrowska Joanna, Witkowska Małgorzata, Struck Anna, Laszuk Patrycja E., Raczuk Edyta, PONIKOWSKA MAŁGORZATA, Skowron Piotr M., Zylicz-Stachula Agnieszka. - Antibiotics - 2022 : vol. 11, nr 2, art. ID 242, s. 1-20, bibliogr. 127 poz., streszcz. ang.
4. Synchronous bilateral multifocal basal cell adenomas of the parotid gland - a case report - PIĄTKOWSKI JAKUB, GARSTA EWA, Śmigielski Grzegorz, MARKIET KAROLINA, WASĄG BARTOSZ, Ciarka Aleksandra, MIKASZEWSKI BOGUSŁAW. - BMC Oral Health - 2022 : vol. 22, art. ID 314, s. 1-5, bibliogr. 21 poz., streszcz. ang.
5. Variant identification in BARD1, PRDM9, RCC1, and RECQL in patients with ovarian cancer by targeted next-generation sequencing of DNA pools - Suszynska Malwina, RATAJSKA MAGDALENA, Galka-Marciniak Paulina, Ryszkowska Aleksandra, WYDRA DARIUSZ, DĘBNIAK JAROSŁAW, JASIAK ANNA, WASĄG BARTOSZ, Cybulski Cezary, Kozlowski Piotr. - Cancer Prev. Res. - 2022 : vol. 15, nr 3, s. 151-160, bibliogr. 49 poz., streszcz. ang.
6. Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN) - Lu Liangjian, Yap Yok-Chin, Nguyen Duc Quang, Chan Yiong-Huak, Ng Jun-Li, Zhang Yao-Chun, Chan Chang-Yien, Than Mya, Liu Isaac Desheng, Asim Sadaf, Moorani Khemchand, Naeem Bilquis, Ijaz Iftikhar, Nguyen Thi Minh Tan, Lee Ming-Lee, Eng Caroline, Huque Syed Saimul, Ng Yong-Hong, Ganesan Indra, Chao Sing-Ming, Chong Siew-Le, Tan Puay-Hoon, Loh Alwin, Davila Sonia, Kumar Vikrant, Ling Joanna Zhi-Jie, Moorakonda Rajesh Babu, Tan Karen Mei-Ling, Ng Alvin Yu-Jin, Poon Kok-Siong, Schaefer Franz, LIPSKA-ZIĘTKIEWICZ BEATA, Yap Hui-Kim, Ng Kar-Hui. - Clin. Genet. - 2022 : vol. 101, nr 5/6, s. 541-551, bibliogr. 16 poz., streszcz. ang.
7. Guidelines for genetic testing and management of Alport syndrome - Savige Judy, LIPSKA-ZIĘTKIEWICZ BEATA S., Watson Elizabeth, Hertz Jens Michael, Deltas Constantinos, Mari Francesca, Hilbert Pascale, Plevova Pavlina, Byers Peter, Cerkauskaite Agne, Gregory Martin, Cerkauskiene Rimante, Galesic Ljubanovic Danica, Becherucci Francesca, Errichiello Carmela, Massella Laura, Aiello Valeria, Lennon Rachel, Hopkinson Louise, Koziell Ania, Lungu Adrian, Rothe Hansjorg Martin, Hoefele Julia, Zacchia Miriam, Martic Tamara Nikuseva, Gupta Asheeta, van Eerde Albertien, Gear Susie, Landini Samuela, Palazzo Viviana, al-Rabadi Laith, Claes Kathleen, Corveleyn Anniek, Van Hoof Evelien, van Geel Micheel, Williams Maggie, Ashton Emma, Belge Hendica, Ars Elisabet, Bierzynska Agnieszka, Gangemi Concetta, Renieri Alessandra, Storey Helen, Flinter Frances. - Clin. J. Am. Soc. Nephrol. - 2022 : vol. 17, nr 1, s. 143-154, bibliogr. 83 poz., streszcz. ang.
8. Polymorphisms associated with thyroid-stimulating hormone levels predispose to papillary thyroid carcinoma - Rokicka Aleksandra, CHMARA MAGDALENA, OBOŁOŃCZYK ŁUKASZ, KANIUKA-JAKUBOWSKA SONIA, WASĄG BARTOSZ, SWORCZAK KRZYSZTOF, JENDRZEJEWSKI JAROSŁAW. - Endokrynol. Pol. - 2022 : vol. 73, supl. A, s. 8
9. The 2019 and 2021 International Workshops on Alport Syndrome - Daga Sergio, Ding Jie, Deltas Constantinos, Savige Judy, LIPSKA-ZIĘTKIEWICZ BEATA S., Hoefele Julia, Flinter Frances, Gale Daniel P., Aksenova Marina, Kai Hirofumi, Perin Laura, Barua Moumita, Torra Roser, Miner Jeff H., Massella Laura, Galešić Ljubanović Danica, Lennon Rachel, Weinstock Andrè B., Knebelmann Bertrand, Cerkauskaite Agne, Gear Susie, Gross Oliver, Turner A. Neil, Baldassarri Margherita, Pinto Anna Maria, Renieri Alessandra. - Eur. J. Hum. Genet. - 2022 : vol. 30, nr 5, s. 507-516, bibliogr. 58 poz., streszcz. ang.
10. Analysis of BARD1, PRDM9, RCC1, and RECQL in patients with ovarian cancer by targeted next-generation sequencing of DNA pools - Suszynska Malwina, RATAJSKA MAGDALENA, Ryszkowska Aleksandra, DĘBNIAK JAROSŁAW, WYDRA DARIUSZ, Cybulski Cezary, WASĄG BARTOSZ, Kozlowski Piotr. - Eur. J. Hum. Genet. - 2022 : vol. 30, suppl. 1, s. 418
11. Innate immune checkpoint inhibitor resistance is associated with melanoma sub-types exhibiting invasive and de-differentiated gene expression signatures - Hossain Sultana Mehbuba, Gimenez Gregory, Stockwell Peter A., Tsai Peter, Print Cristin G., Rys Janusz, Cybulska-Stopa Bozena, RATAJSKA MAGDA, Harazin-Lechowska Agnieszka, Almomani Suzan, Jackson Christopher, Chatterjee Aniruddha, Eccles Michael R.. - Front. Immunol. - 2022 : vol. 13, art. ID 955063, s. 1-17, bibliogr. 76 poz., streszcz. ang.
12. Intrasalivary thymic carcinoma: a case report and literature review - KUNC MICHAŁ, Kamieniecki Alexandra, Walczak Grzegorz, NOWICKI TOMASZ, WASĄG BARTOSZ, MIKASZEWSKI BOGUSŁAW, STODULSKI DOMINIK, BIERNAT WOJCIECH. - Head Neck Pathol. - 2022 : vol. 16, nr 3, s. 857-864, bibliogr. 22 poz., streszcz. ang.
13. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes - Scala Marcello, Drouot Nathalie, MacLennan Suzanna C., Wessels Marja W., KRYGIER MAGDALENA, Pavinato Lisa, Telegrafi Aida, de Man Stella A., van Slegtenhorst Marjon, Iacomino Michele, Madia Francesca, Scudieri Paolo, Uva Paolo, Giacomini Thea, Nobile Giulia, Mancardi Maria Margherita, Balagura Ganna, Galloni Giovanni Battista, Verrotti Alberto, Umair Muhammad, Khan Amjad, Liebelt Jan, Schmidts Miriam, Langer Thorsten, Brusco Alfredo, LIPSKA-ZIĘTKIEWICZ BEATA S., Saris Jasper J., Charlet-Berguerand Nicolas, Zara Federico, Striano Pasquale, Piton Amélie. - Hum. Mutat. - 2022 : vol. 43, nr 9, s. 1299-1313, bibliogr. 55 poz., streszcz. ang.
14. Secondary chronic myeloid leukemia in a patient with CALR and ASXL1-mutated primary myelofibrosis - SOBIERALSKI PATRYK, BIENIASZEWSKA MARIA, LESZCZYŃSKA ALEKSANDRA, ŻUK MONIKA, WASĄG BARTOSZ, ZAUCHA JAN MACIEJ. - Int. J. Hematol. - 2022 : vol. 116, nr 3, s. 442-445, bibliogr. 14 poz., streszcz. ang.
15. Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants - JANKOWSKI (gen.) MACIEJ, Daca-Roszak Patrycja, Obracht-Prondzyński Cezary, Płoski Rafał, LIPSKA-ZIĘTKIEWICZ BEATA, Ziętkiewicz Ewa. - J. Appl. Genet. - 2022 : vol. 63, nr 4, s. 691-701, bibliogr. [93] poz., streszcz. ang.
16. Bilateral ovarian germ cell tumor in a 46,XX female with Nijmegen breakage syndrome and hypergonadotropic hypogonadism - KRAWCZYK MAŁGORZATA A., Styczewska Malgorzata, BIRKHOLZ-WALERZAK DOROTA, ILISZKO MARIOLA, LIPSKA-ZIĘTKIEWICZ BEATA S., Kosiak Wojciech, IRGA-JAWORSKA NINELA, IŻYCKA-ŚWIESZEWSKA EWA, BIEŃ EWA. - J. Clin. Res. Pediatr. Endocrinol. - 2022 : vol. 14, nr 2, s. 251-257, bibliogr. 30 poz., streszcz. ang.
17. Variation of the clinical spectrum and genotype-phenotype associations in coenzyme Q10 deficiency associated glomerulopathy - Drovandi Stefania, LIPSKA-ZIĘTKIEWICZ BEATA S., Ozaltin Fatih, Emma Francesco, Gulhan Bora, Boyer Olivia, Trautmann Agnes, Ziętkiewicz Szymon, Xu Hong, Shen Qian, Rao Jia obcy, Riedhammer Korbinian M., Heemann Uwe, Hoefele Julia, Stenton Sarah L., Tsygin Alexey N., Ng Kar-Hui, Fomina Svitlana, Benetti Elisa, Aurelle Manon, Prikhodina Larisa, Schijvens Anne M., Tabatabaeifar Mansoureh, JANKOWSKI (gen.) MACIEJ, Baiko Sergey, Mao Jianhua, Feng Chunyue, Deng Fang, Rousset-Rouviere Caroline, Stańczyk Małgorzata, BAŁASZ-CHMIELEWSKA IRENA, Fila Marc, Durkan Anne M., Levart Tanja Kersnik, Dursun Ismail, Esfandiar Nasrin, Haas Dorothea, Bjerre Anna, Anarat Ali, Benz Marcus R., Talebi Saeed, Hooman Nakysa, Ariceta Gema, Schaefer Franz. - Kidney Int. - 2022 : vol. 102, nr 3, s. 592-603, bibliogr. 24 poz., streszcz. ang.
18. Oral coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary coenzyme Q10 deficiency - Drovandi Stefania, LIPSKA-ZIĘTKIEWICZ BEATA S., Ozaltin Fatih, Emma Francesco, Gulhan Bora, Boyer Olivia, Trautmann Agnes, Xu Hong, Shen Qian, Rao Jia, Riedhammer Korbinian M., Heemann Uwe, Hoefele Julia, Stenton Sarah L., Tsygin Alexey N., Ng Kar-Hui, Fomina Svitlana, Benetti Elisa, Aurelle Manon, Prikhodina Larisa, Schreuder Michiel F., Tabatabaeifar Mansoureh, JANKOWSKI (gen.) MACIEJ, Baiko Sergey, Mao Jianhua, Feng Chunyue, Liu Cuihua, Sun Shuzhen, Deng Fang, Wang Xiaowen, Clavé Stéphanie, Stańczyk Małgorzata, BAŁASZ-CHMIELEWSKA IRENA, Fila Marc, Durkan Anne M., Levart Tanja Kersnik, Dursun Ismail, Esfandiar Nasrin, Haas Dorothea, Bjerre Anna, Anarat Ali, Benz Marcus R., Talebi Saeed, Hooman Nakysa, Ariceta Gema, Schaefer Franz. - Kidney Int. - 2022 : vol. 102, nr 3, s. 604-612, bibliogr. 23 poz., streszcz. ang.
19. Later response to corticosteroids in adults with primary focal segmental glomerular sclerosis is associated with favorable outcomes - Rood Ilse M., Bavinck Aernoud, LIPSKA-ZIĘTKIEWICZ BEATA S., Lugtenberg Dorien, Schaefer Franz, Deegens Jeroen K. J., Wetzels Jack F. M.. - Kidney Int. Rep. - 2022 : vol. 7, nr 1, s. 87-98, bibliogr. 36 poz., streszcz. ang.
20. Impact of activation of EGFL7 within microenvironment of high grade ovarian serous carcinoma on infiltration of CD4+ and CD8+ lymphocytes - SZNURKOWSKI JACEK J., Żawrocki Anton, KRAWCZYŃSKA NATALIA, BIEŃKOWSKI MICHAŁ, WASĄG BARTOSZ, BIERNAT WOJCIECH. - Medicina-Lithuania - 2022 : vol. 58, nr 5, art. ID 588, s. 1-11, bibliogr. 32 poz., streszcz. ang.
21. Alterations in key signaling pathways in sinonasal tract melanoma : a molecular genetics and immunohistochemical study of 90 cases and comprehensive review of the literature - Chłopek Małgorzata, Lasota Jerzy, Thompson Lester D. R., Szczepaniak Magdalena, KUŹNIACKA ALINA, Hińcza Kinga, Kubicka Kamila, Kaczorowski Maciej, Newford Michael, Liu Yalan, Agaimy Abbas, BIERNAT WOJCIECH, Durzyńska Monika, Dziuba Ireneusz, Hartmann Arndt, Inaguma Shingo, IŻYCKA-ŚWIESZEWSKA EWA, Kato Hiroyuki, Kopczyński Janusz, Michal Michal, Michal Michael, PĘKSA RAFAŁ, Prochorec-Sobieszek Monika, Takahashi Satoru, WASĄG BARTEK BARTOSZ, Kowalik Artur, Miettinen Markku. - Mod. Pathol. - 2022 : vol. 35, nr 11, s. 1609-1617, bibliogr. 80 poz., streszcz. ang.
22. Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice - Knoers Nine, Antignac Corinne, Bergmann Carsten, Dahan Karin, Giglio Sabrina, Heidet Laurence, LIPSKA-ZIĘTKIEWICZ BEATA S., Noris Marina, Remuzzi Giuseppe, Vargas-Poussou Rosa, Schaefer Franz. - Nephrol. Dial. Transplant. - 2022 : vol. 37, nr 2, s. 239-254, bibliogr. 120 poz., streszcz. ang.
23. Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype - KOCZKOWSKA MAGDALENA, JĄKALSKI MARCIN, BIRKHOLZ-WALERZAK DOROTA, KOSTECKA ANNA, ILISZKO MARIOLA, WÓJCIK MAGDALENA, LEWANDOWSKI KRZYSZTOF, MILSKA-MUSA KATARZYNA, Buckley Patrick G., DRĘŻEK KINGA, JUHAS ULANA, KUZIEMSKA EWA, MACIEJEWSKA AGNIESZKA, PAWŁOWSKI RYSZARD, WASĄG BARTOSZ, FILIPOWICZ NATALIA, CHOJNOWSKA KATARZYNA, ŁAWRYNOWICZ URSZULA, DUMAŃSKI JAN P., LIPSKA-ZIĘTKIEWICZ BEATA S., MIECZKOWSKI JAKUB, PIOTROWSKI ARKADIUSZ. - Sci. Rep. - 2022 : vol. 12, art. ID 20854, s. 1-8, bibliogr. 22 poz., streszcz. ang.
24. Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome - Gibson Joel T., Huang Mary, Shenelli Croos Dabrera Marina, Shukla Krushnam, Rothe Hansjörg, Hilbert Pascale, Deltas Constantinos, Storey Helen, LIPSKA-ZIĘTKIEWICZ BEATA S., Chan Melanie M.Y., Sadeghi-Alavijeh Omid, Gale Daniel P., Cerkauskaite Agne, Savige Judy. - Sci. Rep. - 2022 : vol. 12, art. ID 2722, s. 1-13, bibliogr. 60 poz., streszcz. ang.
25. SHH pathway tissue expression depends on histological type of germ cell tumours - Czarnota K., LIPSKA-ZIĘTKIEWICZ BEATA, Grajkowska W., Stefanowicz J., Drozynska E., Dembowska-Baginska B., Jankowski M., Jasiak A., BUCZKOWSKI KAMIL, IŻYCKA-ŚWIESZEWSKA EWA. - Virchows Arch. - 2022 : vol. 481, suppl. 1, s. S184
26. Therapeutic options in inoperable ROS1-rearranged inflammatory myofibroblastic tumor of the tongue in a child : a case report and literature review - Styczewska Malgorzata, PATEL AGASTYA, Jaskulowska Joanna, Godzinski Jan, ŚWIĘTOŃ DOMINIK, WASĄG BARTOSZ, Dass Juliea, BIEŃ EWA, KRAWCZYK MAŁGORZATA A.. - Anticancer Drugs - 2021 : vol. 32, nr 10, s. 1111-1115, bibliogr. 24 poz., streszcz. ang.
27. Diagnostic accuracy of liquid biopsy in endometrial cancer - ŁUKASIEWICZ MARTA, Pastuszak Krzysztof, ŁAPIŃSKA-SZUMCZYK SYLWIA, Różański Robert, In t Veld Sjors G. J. G., BIEŃKOWSKI MICHAŁ, STOKOWY TOMASZ, RATAJSKA MAGDALENA, Best Myron G., Würdinger Thomas, ŻACZEK ANNA J., SUPERNAT ANNA, JASSEM JACEK. - Cancers - 2021 : vol. 13, nr 22, art. ID 5731, s. 1-11, bibliogr. 42 poz., streszcz. ang.
28. Carotid intima-media thickness (IMT) in patients with severe familial and non-familial hypercholesterolemia : the effect of measurement site on the IMT correlation with traditional cardiovascular risk factors and calcium scores - GAŁĄSKA RAFAŁ, KULAWIAK-GAŁĄSKA DOROTA, CHMARA MAGDALENA, CHLEBUS KRZYSZTOF, MICKIEWICZ AGNIESZKA, RYNKIEWICZ ANDRZEJ, WASĄG BARTOSZ, STUDNIAREK MICHAŁ, FIJAŁKOWSKI MARCIN, GRUCHAŁA MARCIN. - Cardiol. J. - 2021 : vol. 28, nr 2, s. 271-278, bibliogr. 24 poz.
29. SHH pathway proteins expression in germ cell tumors including intracranial cases - Czarnota Katarzyna, LIPSKA-ZIĘTKIEWICZ BEATA, DROŻYŃSKA ELŻBIETA, Grajkowska Wiesława, Drabik Grażyna, GOERTZ SEBASTIAN, Szwed Edyta, IŻYCKA-ŚWIESZEWSKA EWA. - Clin. Neuropathol. - 2021 : vol. 40, suppl. 1, s. S81
30. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria - Savige Judy, Storey Helen, Watson Elizabeth, Hertz Jens Michael, Deltas Constantinos, Renieri Alessandra, Mari Francesca, Hilbert Pascale, Plevova Pavlina, Byers Peter, Cerkauskaite Agne, Gregory Martin, Cerkauskiene Rimante, Ljubanovic Danica Galesic, Becherucci Francesca, Errichiello Carmela, Massella Laura, Aiello Valeria, Lennon Rachel, Hopkinson Louise, Koziell Ania, Lungu Adrian, Rothe Hansjorg Martin, Hoefele Julia, Zacchia Miriam, Martic Tamara Nikuseva, Gupta Asheeta, van Eerde Albertien, Gear Susie, Landini Samuela, Palazzo Viviana, al-Rabadi Laith, Claes Kathleen, Corveleyn Anniek, Van Hoof Evelien, van Geel Micheel, Williams Maggie, Ashton Emma, Belge Hendica, Ars Elisabeth, Bierzynska Agnieszka, Gangemi Concetta, LIPSKA-ZIĘTKIEWICZ BEATA S.. - Eur. J. Hum. Genet. - 2021 : vol. 29, nr 8, s. 1186-1197, bibliogr. 57 poz., streszcz. ang.
31. Immune dysregulation in patients with chromosome 18q deletions- searching for putative loci for autoimmunity and immunodeficiency - Hogendorf Anna, ZIELIŃSKI MACIEJ, Constantionou Maria, Śmigiel Robert, WIERZBA JOLANTA, Wyka Krystyna, Wędrychowicz Anna, Jakubiuk-Tomaszuk Anna, Budzynska Edyta, Piotrowicz Malgorzata, LIPSKA-ZIĘTKIEWICZ BEATA S., KACZOROWSKA EWA, Cieślikowska Agata, Kutkowska-Kaźmierczak Anna, Fijak-Moskal Jolanta, Kugaudo Monika, Kosińska-Urbańska Małgorzata, Szadkowska Agnieszka, Borowiec Maciej, NIEDŹWIECKI MACIEJ, TRZONKOWSKI PIOTR, Młynarski Wojciech. - Front. Immunol. - 2021 : vol. 12, art. ID 742834, s. 1-14, bibliogr. 53 poz., streszcz. ang.
32. BARD1 autoantibody blood test for early detection of ovarian cancer - Pilyugin Maxim, RATAJSKA MAGDALENA, Stukan Maciej, Concin Nicole, Zeillinger Robert, Irminger-Finger Irmgard. - Genes (Basel) - 2021 : vol. 12, nr 7, art. ID 969, s. 1-13, bibliogr. 43 poz., streszcz. ang.
33. Differential expression of BARD1 isoforms in melanoma - McDougall Lorissa I., Powell Ryan M., RATAJSKA MAGDA, Lynch-Sutherland Chi F., Mehbuba Hossain Sultana, Wiggins George A. R., Harazin-Lechowska Agnieszka, Cybulska-Stopa Bożena, Motwani Jyoti, Macaulay Erin C., Reid Glen, Walker Logan C., Ryś Janusz, Eccles Michael R.. - Genes (Basel) - 2021 : vol. 12, nr 2, art ID 320, s. 1-10, bibliogr. 44 poz., streszcz. ang.
34. Expression of BARD1 β isoform in selected pediatric tumors - JASIAK ANNA, KRAWCZYŃSKA NATALIA, ILISZKO MARIOLA, Czarnota Katarzyna, BUCZKOWSKI KAMIL, STEFANOWICZ JOANNA, ADAMKIEWICZ-DROŻYŃSKA ELŻBIETA, Cichosz Grzegorz, IŻYCKA-ŚWIESZEWSKA EWA. - Genes (Basel) - 2021 : vol. 12, nr 2, art ID 168, s. 1-14, bibliogr. 57 poz., streszcz. ang.
35. Wide fontanels, delayed speech development and hoarse voice as useful signs in the diagnosis of KBG syndrome : a clinical description of 23 cases with pathogenic variants involving the ANKRD11 gene or submicroscopic chromosomal rearrangements of 16q24.3 - Kutkowska-Kaźmierczak Anna, Boczar Maria, Kalka Ewa, Castaneda Jennifer, Klapecki Jakub, Pietrzyk Aleksandra, Barczyk Artur, Malinowska Olga, Landowska Aleksandra, Gambin Tomasz, Kowalczyk Katarzyna, Wiśniowiecka-Kowalnik Barbara, Smyk Marta, Dawidziuk Mateusz, Niepokój Katarzyna, Paczkowska Magdalena, Szyld Paweł, LIPSKA-ZIĘTKIEWICZ BEATA, Szczałuba Krzysztof, Kostyk Ewa, Runge Agata, Rutkowska Karolina, Płoski Rafał, Nowakowska Beata, Bal Jerzy, Obersztyn Ewa, Gos Monika. - Genes (Basel) - 2021 : vol. 12, nr 8, art ID 1257, s. 1-15, bibliogr. 25 poz., streszcz. ang.
36. Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia - Pastorczak Agata, Hogendor Anna, Urbanska Zuzanna, Jesionek-Kupnicka Dorota, Gach Agnieszka, Hawula Wanda, Smigiel Robert, Skiba Pawel, Sasiadek Maria, Lejman Monika, LIPSKA-ZIĘTKIEWICZ BEATA S., Mlynarski Wojciech. - Genes Chromosomes Cancer - 2021 : vol. 60, nr 2, s. 79-87, bibliogr. 26 poz., streszcz. ang.
37. Butyrylcholinesterase - protein interactions in human serum - JASIECKI JACEK, SZCZOCZARZ ANNA, Cysewski Dominik, LEWANDOWSKI KRZYSZTOF, Skowron Piotr, WALERON KRZYSZTOF, WASĄG BARTOSZ. - Int. J. Mol. Sci. - 2021 : vol. 22, nr 19, art. ID 10662, s. 1-14, bibliogr. 48 poz., streszcz. ang.
38. The role of butyrylcholinesterase and iron in the regulation of cholinergic network and cognitive dysfunction in Alzheimer's disease pathogenesis - JASIECKI JACEK, TARGOŃSKA MONIKA, WASĄG BARTOSZ. - Int. J. Mol. Sci. - 2021 : vol. 22, nr 4, art. ID 2033, s. 1-14, bibliogr. 161 poz., streszcz. ang.
39. Homozygous familial hypercholesterolemia due to APOB genetic variant with unusual clinical course - CHLEBUS KRZYSZTOF, ŻARCZYŃSKA-BUCHOWIECKA MARTA, PAJKOWSKI MARCIN, CHMARA MAGDALENA, Tromp Tycho R., GRUCHAŁA MARCIN. - Kardiol. Pol. - 2021 : t. 79, nr 9, s. 1030-1031, bibliogr. 5 poz.
40. Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife - ŻUROWSKA ALEKSANDRA M., BIELSKA OLGA, Daca-Roszak Patrycja, JANKOWSKI (gen.) MACIEJ, Szczepańska Maria, Roszkowska-Bjanid Dagmara, Kuźma-Mroczkowska Elżbieta, Pańczyk-Tomaszewska Małgorzata, Moczulska Anna, Drożdż Dorota, Hadjipanagi Despina, Deltas Constantinos, Ostalska-Nowicka Danuta, Rabiega Alina, Taraszkiewicz Janina, Taranta-Janusz Katarzyna, Wieczorkiewicz-Plaza Anna, Jobs Katarzyna, Mews Judyta, Musiał Kinga, Jakubowska Anna, Nosek Hanna, Jander Anna E., Koutsofti Constantina, Stanisławska-Sachadyn Anna, Kuleszo Dominika, Ziętkiewicz Ewa, LIPSKA-ZIĘTKIEWICZ BEATA S.. - Kidney Int. - 2021 : vol. 99, nr 6, s. 1451-1458, bibliogr. 25 poz., streszcz. ang.
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