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Results: 1 to 20 of 304

1.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Cazorla AG.

J Inherit Metab Dis. 2015 Apr 15. [Epub ahead of print]

PMID:
25875216
2.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Apr 15. [Epub ahead of print]

PMID:
25875215
3.

Occipitocervical stabilization using bilateral laminar C2 screws in children with mucopolysaccharidosis IVA.

Vanek P, Homolkova H, Benes V, Zeman J.

Eur Spine J. 2015 Mar 21. [Epub ahead of print]

PMID:
25794700
4.

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.

J Inherit Metab Dis. 2015 Mar 17. [Epub ahead of print] No abstract available.

PMID:
25778942
5.

[Surgical treatment of intra-articular calcaneal fractures in children].

Zeman J, Matějka J.

Acta Chir Orthop Traumatol Cech. 2014;81(6):407-11. Czech.

PMID:
25651296
6.

[Psychiatric disturbances in five patients with MELAS syndrome].

Magner M, Honzik T, Tesarova M, Dvorakova V, Hansiková H, Raboch J, Zeman J.

Psychiatr Pol. 2014 Sep-Oct;48(5):1035-45. Polish.

PMID:
25639022
7.

High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome c oxidase.

Vondráčková A, Veselá K, Zeman J, Tesařová M.

Methods Mol Biol. 2015;1264:351-67. doi: 10.1007/978-1-4939-2257-4_31.

PMID:
25631028
8.

Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.

Rodinová M, Trefilová E, Honzík T, Tesařová M, Zeman J, Hansíková H.

Folia Biol (Praha). 2014;60(6):268-74.

9.

Aperiodic compression and reconstruction of real-world material systems based on Wang tiles.

Doškář M, Novák J, Zeman J.

Phys Rev E Stat Nonlin Soft Matter Phys. 2014 Dec;90(6):062118. Epub 2014 Dec 11.

PMID:
25615055
10.

Changes in the mechanical parameters of hair in a group of women in reproductive age.

Jelen K, Skřontová M, Šimkova L, Zeman J, Tlapáková E, Fanta O.

Neuro Endocrinol Lett. 2014;35(6):481-9.

PMID:
25433839
11.

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-Kozicz E, Sperl W, Zeman J, Honzik T.

J Inherit Metab Dis. 2014 Oct 18. [Epub ahead of print]

PMID:
25326274
12.

In vivo effects of focused shock waves on tumor tissue visualized by fluorescence staining techniques.

Lukes P, Zeman J, Horak V, Hoffer P, Pouckova P, Holubova M, Hosseini SH, Akiyama H, Sunka P, Benes J.

Bioelectrochemistry. 2015 Jun;103:103-10. doi: 10.1016/j.bioelechem.2014.08.019. Epub 2014 Aug 29.

PMID:
25200989
13.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Mayorandan S, Meyer U, Gokcay G, Segarra N, de Baulny H, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla A, Cocho de Juan J, Couce Pico M, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud Y, Freisinger P, Aldamiz-Echevarria L, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das A.

Orphanet J Rare Dis. 2014 Aug 1;9(1):107. [Epub ahead of print]

14.

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.

Park EJ, Grabińska KA, Guan Z, Stránecký V, Hartmannová H, Hodaňová K, Barešová V, Sovová J, Jozsef L, Ondrušková N, Hansíková H, Honzík T, Zeman J, Hůlková H, Wen R, Kmoch S, Sessa WC.

Cell Metab. 2014 Sep 2;20(3):448-57. doi: 10.1016/j.cmet.2014.06.016. Epub 2014 Jul 24.

PMID:
25066056
15.

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.

Ondruskova N, Honzik T, Vondrackova A, Tesarova M, Zeman J, Hansikova H.

Neuro Endocrinol Lett. 2014;35(2):137-41.

PMID:
24878975
16.

Children's experiences of maternal incarceration-specific risks: predictions to psychological maladaptation.

Dallaire DH, Zeman JL, Thrash TM.

J Clin Child Adolesc Psychol. 2015;44(1):109-22. doi: 10.1080/15374416.2014.913248. Epub 2014 May 28.

17.

[Anatomical ACL reconstruction by a double- versus a single-bundle technique. Prospective randomised study of short-term clinical results].

Zeman P, Koudela K, Kasl J, Nepraš P, Zeman J, Matějka J.

Acta Chir Orthop Traumatol Cech. 2014;81(1):40-50. Czech.

PMID:
24755056
18.

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.

Sípek A Jr, Grodecká L, Baxová A, Cibulková P, Dvořáková M, Mazurová S, Magner M, Zeman J, Honzík T, Freiberger T.

Am J Med Genet A. 2014 Jun;164A(6):1559-64. doi: 10.1002/ajmg.a.36480. Epub 2014 Mar 25.

PMID:
24668922
19.

Mitochondrial membrane assembly of TMEM70 protein.

Kratochvílová H, Hejzlarová K, Vrbacký M, Mráček T, Karbanová V, Tesařová M, Gombitová A, Cmarko D, Wittig I, Zeman J, Houštěk J.

Mitochondrion. 2014 Mar;15:1-9. doi: 10.1016/j.mito.2014.02.010. Epub 2014 Feb 25.

PMID:
24576557
20.

Nudged-elastic band used to find reaction coordinates based on the free energy.

Bohner MU, Zeman J, Smiatek J, Arnold A, Kästner J.

J Chem Phys. 2014 Feb 21;140(7):074109. doi: 10.1063/1.4865220.

PMID:
24559340
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