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EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM. Skopkova M, et al. Among authors: brennerova k. Hum Mutat. 2017 Apr;38(4):409-425. doi: 10.1002/humu.23170. Epub 2017 Jan 23. Hum Mutat. 2017. PMID: 28055140 Free PMC article.
TMEM70 deficiency: long-term outcome of 48 patients.
Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. Magner M, et al. Among authors: brennerova k. J Inherit Metab Dis. 2015 May;38(3):417-26. doi: 10.1007/s10545-014-9774-8. Epub 2014 Oct 18. J Inherit Metab Dis. 2015. PMID: 25326274
Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.
Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. Magner M, et al. Among authors: brennerova k. J Inherit Metab Dis. 2015 May;38(3):583-4. doi: 10.1007/s10545-015-9833-9. J Inherit Metab Dis. 2015. PMID: 25778942 No abstract available.
N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant.
Kodríková R, Pakanová Z, Krchňák M, Šedivá M, Šesták S, Květoň F, Beke G, Šalingová A, Skalická K, Brennerová K, Jančová E, Baráth P, Mucha J, Nemčovič M. Kodríková R, et al. Among authors: brennerova k. Biomedicines. 2023 Feb 16;11(2):580. doi: 10.3390/biomedicines11020580. Biomedicines. 2023. PMID: 36831116 Free PMC article.
Ophthalmological finding in a patient with lowe syndrome.
Tomčíková D, Gerinec A, Bzdúch V, Krásnik V, Bušányová B, Brennerová K. Tomčíková D, et al. Among authors: brennerova k. Cesk Slov Oftalmol. 2018 Winter;74(3):104-106. doi: 10.31348/2018/1/4-3-2018. Cesk Slov Oftalmol. 2018. PMID: 30650973 Free article. English.
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