1. Associations between breastfeeding rates and infant disease: A survey of 2338 Czech children. Issue 3 (22nd April 2019) Authors: Parizkova, Petra; Dankova, Nika; Frühauf, Pavel; Jireckova, Jitka; Zeman, Jiri; Magner, Martin Journal: Nutrition & dietetics Issue: Volume 77:Issue 3(2020) Page Start: 310 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Erratum to: TMEM70 deficiency: long‐term outcome of 48 patients. Issue 3 (17th March 2015) Authors: Magner, Martin; Dvorakova, Veronika; Tesarova, Marketa; Mazurova, Stella; Hansikova, Hana; Zahorec, Martin; Brennerova, Katarina; Bzduch, Vladimir; Spiegel, Ronen; Horovitz, Yoseph; Mandel, Hanna; Eminoğlu, Fatma Tuba; Mayr, Johannes Adalbert; Koch, Johannes; Martinelli, Diego; Bertini, Enrico; K... Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 3(2015) Page Start: 583 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency. Issue 6 (6th April 2020) Authors: Mazurova, Stella; Tesarova, Marketa; Zeman, Jiri; Stranecky, Viktor; Hansikova, Hana; Baxova, Alica; Giertlova, Maria; Lastuvkova, Jana; Chovanova, Vanda; Rusnakova, Simona; Knapkova, Maria; Minarik, Gabriel; Honzik, Tomas; Magner, Martin Journal: Journal of dermatology Issue: Volume 47:Issue 6(2020) Page Start: 663 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Late‐presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency. (March 2017) Authors: Sarajlija, Adrijan; Magner, Martin; Djordjevic, Maja; Kecman, Bozica; Grujic, Blagoje; Tesarova, Marketa; Minic, Predrag Journal: Congenital anomalies Issue: Volume 57:Number 2(2017) Page Start: 64 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Issue 4 (24th March 2010) Authors: Honzík, Tomáš; Tesařová, Markéta; Mayr, Johannes A; Hansíková, Hana; Ješina, Pavel; Bodamer, Olaf; Koch, Johannes; Magner, Martin; Freisinger, Peter; Huemer, Martina; Kostková, Olga; van Coster, Rudy; Kmoch, Stanislav; Houštêk, Josef; Sperl, Wolfgang; Zeman, Jiří Journal: Archives of disease in childhood Issue: Volume 95:Issue 4(2010) Page Start: 296 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome. Issue 6 (25th March 2014) Authors: Šípek, Antonín; Grodecká, Lucie; Baxová, Alice; Cibulková, Petra; Dvořáková, Magdaléna; Mazurová, Stella; Magner, Martin; Zeman, Jiří; Honzík, Tomáš; Freiberger, Tomáš Journal: American journal of medical genetics Issue: Volume 164:Issue 6(2014.) Page Start: 1559 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis. (August 2020) Authors: Murgasova, Lenka; Jurovcik, Michal; Jesina, Pavle; Malinova, Vera; Bloomfield, Marketa; Zeman, Jiri; Magner, Martin Journal: International journal of pediatric otorhinolaryngology Issue: Volume 135(2020:Aug.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Pitfalls of X‐chromosome inactivation testing in females with Fabry disease. Issue 7 (26th March 2022) Authors: Řeboun, Martin; Sikora, Jakub; Magner, Martin; Wiederlechnerová, Helena; Černá, Alena; Poupětová, Helena; Štorkánova, Gabriela; Mušálková, Dita; Dostálová, Gabriela; Goláň, Lubor; Linhart, Aleš; Dvořáková, Lenka Journal: American journal of medical genetics Issue: Volume 188:Issue 7(2022) Page Start: 1979 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Sideroblastic anemia associated with multisystem mitochondrial disorders. Issue 4 (26th December 2018) Authors: Tesarova, Marketa; Vondrackova, Alzbeta; Stufkova, Hana; Veprekova, Lenka; Stranecky, Viktor; Berankova, Kamila; Hansikova, Hana; Magner, Martin; Galoova, Natalia; Honzik, Tomas; Vodickova, Elena; Stary, Jan; Zeman, Jiri Journal: Pediatric blood & cancer Issue: Volume 66:Issue 4(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature. (14th November 2016) Authors: Mazurova, Stella; Magner, Martin; Kucerova-Vidrova, Vendula; Vondrackova, Alzbeta; Stranecky, Viktor; Pristoupilova, Anna; Zamecnik, Josef; Hansikova, Hana; Zeman, Jiri; Tesarova, Marketa; Honzik, Tomas Journal: Cardiology in the young Issue: Volume 27:Number 5(2017) Page Start: 936 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗