1. A progressive KY myopathy could be caused by a missense pathogenic variant. Issue 6 (28th January 2023) Authors: Uhrova‐Meszarosova, Anna; Vlckova, Marketa; Rennerova, Ladislava; Haberlova, Jana; Zamecnik, Josef; Seeman, Pavel; Safka‐Brozkova, Dana Journal: Clinical genetics Issue: Volume 103:Issue 6(2023) Page Start: 723 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation. Issue 3 (22nd December 2022) Authors: Zunova, Hana; Stolfa, Miroslav; Kunikova, Tereza; Novotna, Drahuse; Valkovicova, Radka; Štěrbová, Katalin; Vlckova, Marketa Journal: American journal of medical genetics Issue: Volume 191:Issue 3(2023) Page Start: 870 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Issue 11 (3rd August 2015) Authors: Cordeddu, Viviana; Yin, Jiani C.; Gunnarsson, Cecilia; Virtanen, Carl; Drunat, Séverine; Lepri, Francesca; De Luca, Alessandro; Rossi, Cesare; Ciolfi, Andrea; Pugh, Trevor J.; Bruselles, Alessandro; Priest, James R.; Pennacchio, Len A.; Lu, Zhibin; Danesh, Arnavaz; Quevedo, Rene; Hamid, Alaa; Mar... Journal: Human mutation Issue: Volume 36:Issue 11(2015:Nov.) Page Start: 1080 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis‐ptosis‐epicanthus inversus syndrome. (1st July 2016) Authors: Krepelova, Anna; Simandlova, Martina; Vlckova, Marketa; Kuthan, Pavel; Vincent, Andrea L; Liskova, Petra Journal: Clinical & experimental ophthalmology Issue: Volume 44:Number 9(2016) Page Start: 757 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. ATRT-11. MOLECULAR BACKGROUND AND SURVIVAL OF PATIENTS WITH ATRT AND RHABDOID TUMOURS; SINGLE CENTRE EXPERIENCE. (23rd April 2019) Authors: Misove, Adela; Vlckova, Marketa; Zamecnik, Josef; Krskova, Lenka; Vanova, Katerina; Stary, Jan; Malinova, Bela; Pernikova, Ivana; Vicha, Ales; Liby, Petr; Tichy, Michal; Kyncl, Martin; Zapotocky, Michal; Sumerauer, David Journal: Neuro-oncology Issue: Volume 21(2019)Supplement 2 Page Start: ii65 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration. (September 2020) Authors: Belohlavkova, Anezka; Sterbova, Katalin; Betzler, Cornelia; Burkhard, Stuve; Panzer, Axel; Wolff, Markus; Lassuthova, Petra; Vlckova, Marketa; Kyncl, Martin; Benova, Barbora; Jahodova, Alena; Kudr, Martin; Goerg, Maria; Dusek, Petr; Seeman, Pavel; Kluger, Gerhard; Krsek, Pavel Journal: European journal of paediatric neurology Issue: Volume 28(2020) Page Start: 81 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. Issue 3 (17th January 2018) Authors: Piard, Juliette; Lespinasse, James; Vlckova, Marketa; Mensah, Martin A.; Iurian, Sorin; Simandlova, Martina; Malikova, Marcela; Bartsch, Oliver; Rossi, Massimiliano; Lenoir, Marion; Nugues, Frédérique; Mundlos, Stefan; Kornak, Uwe; Stanier, Philip; Sousa, Sérgio B.; Van Maldergem, Lionel Journal: American journal of medical genetics Issue: Volume 176:Issue 3(2018) Page Start: 668 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Deletions of 9q21.3 including NTRK2 are associated with severe phenotype. (27th October 2014) Authors: Hancarova, Miroslava; Puchmajerova, Alena; Drabova, Jana; Karaskova, Eliska; Vlckova, Marketa; Sedlacek, Zdenek Journal: American journal of medical genetics Issue: Volume 167:Number 1(2015:Jan.) Page Start: 264 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?. (January 2021) Authors: Benova, Barbora; Sanders, Maurits W.C.B.; Uhrova-Meszarosova, Anna; Belohlavkova, Anezka; Hermanovska, Barbora; Novak, Vilem; Stanek, David; Vlckova, Marketa; Zamecnik, Josef; Aronica, Eleonora; Braun, Kees P.J.; Koeleman, Bobby P.C.; Jansen, Floor E.; Krsek, Pavel Journal: European journal of paediatric neurology Issue: Volume 30(2021) Page Start: 88 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. GENE-14. UNIQUE MOLECULAR AND CLINICAL FEATURES OF LI-FRAUMENI SYNDROME ASSOCIATED BRAIN TUMOURS. (23rd April 2019) Authors: Zapotocky, Michal; Misove, Adela; Vlckova, Marketa; Krskova, Lenka; Zamecnik, Josef; Vanova, Katerina; Malinova, Bela; Ondrova, Barbora; Pernikova, Ivana; Vicha, Ales; Tichy, Michal; Liby, Petr; Kyncl, Martin; Ramaswamy, Vijay; Sumerauer, David Journal: Neuro-oncology Issue: Volume 21(2019)Supplement 2 Page Start: ii84 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗