1. Analysis of urinary cathepsin C for diagnosing Papillon–Lefèvre syndrome. (4th January 2016) Authors: Hamon, Yveline; Legowska, Monika; Fergelot, Patricia; Dallet‐Choisy, Sandrine; Newell, Louise; Vanderlynden, Lise; Kord Valeshabad, Ali; Acrich, Karina; Kord, Hadi; Charalampos, Tsamakis; Morice‐Picard, Fanny; Surplice, Ian; Zoidakis, Jerome; David, Karen; Vlahou, Antonia; Ragunatha, Shivanna; Na... Journal: FEBS journal Issue: Volume 283:Number 3(2016) Page Start: 498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CTSC and Papillon–Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update. Issue 3 (11th February 2014) Authors: Nagy, Nikoletta; Vályi, Péter; Csoma, Zsanett; Sulák, Adrienn; Tripolszki, Kornélia; Farkas, Katalin; Paschali, Ekaterine; Papp, Ferenc; Tóth, Lola; Fábos, Beáta; Kemény, Lajos; Nagy, Katalin; Széll, Márta Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 3(2014:May) Page Start: 217 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Effects of metabolic syndrome on arterial function in different age groups: the Advanced Approach to Arterial Stiffness study. Issue 4 (April 2018) Authors: Topouchian, Jirar; Labat, Carlos; Gautier, Sylvie; Bäck, Magnus; Achimastos, Apostolos; Blacher, Jacques; Cwynar, Marcin; de la Sierra, Alejandro; Pall, Denes; Fantin, Francesco; Farkas, Katalin; Garcia-Ortiz, Luis; Hakobyan, Zoya; Jankowski, Piotr; Jelakovic, Ana; Kobalava, Zhanna; Konradi, Alex... Journal: Journal of hypertension Issue: Volume 36:Issue 4(2018:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. High Level of Unwarranted Clinical Variation in the Use of Lower Extremity Revascularisation Procedures in Hungary (2013–2017). (June 2022) Authors: Kolossváry, Endre; Ferenci, Tamás; Kováts, Tamás; Sótonyi, Péter; Szeberin, Zoltán; Nemes, Balázs; Dósa, Edit; Farkas, Katalin; Járai, Zoltán Journal: European journal of vascular and endovascular surgery Issue: Volume 63:Number 6(2022) Page Start: 874 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. High‐throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis. Issue 4 (15th March 2017) Authors: Tripolszki, Kornélia; Török, Dóra; Goudenège, David; Farkas, Katalin; Sulák, Adrienn; Török, Nóra; Engelhardt, József I.; Klivényi, Péter; Procaccio, Vincent; Nagy, Nikoletta; Széll, Márta Journal: Brain and behavior Issue: Volume 7:Issue 4(2017) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identification of putative phenotype‐modifying genetic factors associated with phenotypic diversity in Brooke‐Spiegler syndrome. Issue 10 (17th September 2020) Authors: Pap, Éva Melinda; Farkas, Katalin; Széll, Márta; Németh, Gábor; Rajan, Neil; Nagy, Nikoletta Journal: Experimental dermatology Issue: Volume 29:Issue 10(2020) Page Start: 1017 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Lower Limb Amputations and Revascularisation Procedures in the Hungarian Population: A 14 Year Retrospective Cohort Study. (March 2020) Authors: Kolossváry, Endre; Ferenci, Tamás; Kováts, Tamás; Kovács, Levente; Szeberin, Zoltán; Sótonyi, Péter; Dósa, Edit; Járai, Zoltán; Farkas, Katalin Journal: European journal of vascular and endovascular surgery Issue: Volume 59:Number 3(2020) Page Start: 447 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Nemaline Myopathy Type 2 (NEM2): Two Novel Mutations in the Nebulin (NEB) Gene. (April 2015) Authors: Gajda, Anna; Horváth, Emese; Hortobágyi, Tibor; Gergev, Gyurgyinka; Szabó, Hajnalka; Farkas, Katalin; Nagy, Nikoletta; Széll, Márta; Sztriha, László Journal: Journal of child neurology Issue: Volume 30:Number 5(2015:Apr.) Page Start: 627 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Practical Know‐Wh. (19th June 2016) Authors: Farkas, Katalin Journal: Noûs Issue: Volume 51:Number 4(2017:Dec.) Page Start: 855 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene. Issue 1 (December 2016) Authors: Farkas, Katalin; Deák, Barbara; Sánchez, Laura; Martínez, Ana; Corell, Juan; Botella, Alfredo; Benito, Goitzane; López, Raquel; Vanecek, Tomas; Kazakov, Dmitry; Kromosoeto, Joan; van den Ouweland, Ans; Varga, János; Széll, Márta; Nagy, Nikoletta Journal: BMC genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗