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Results: 1 to 20 of 288

1.

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
[PubMed - in process]
2.

Children's Experiences of Maternal Incarceration-Specific Risks: Predictions to Psychological Maladaptation.

Dallaire DH, Zeman JL, Thrash TM.

J Clin Child Adolesc Psychol. 2014 May 28:1-14. [Epub ahead of print]

PMID:
24871820
[PubMed - as supplied by publisher]
3.

[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
[PubMed - in process]
4.

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
[PubMed - in process]
5.

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
[PubMed - in process]
6.

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
[PubMed - in process]
7.

Compact low resolution spectrograph, an imaging and long slit spectrograph for robotic telescopes.

Rabaza O, Jelinek M, Castro-Tirado AJ, Cunniffe R, Zeman J, Hudec R, Sabau-Graziati L, Ruedas-Sánchez J.

Rev Sci Instrum. 2013 Nov;84(11):114501. doi: 10.1063/1.4827895.

PMID:
24289416
[PubMed - in process]
8.

Elevated cerebrospinal fluid interleukin-17A and interferon-γ levels in early asymptomatic neurosyphilis.

Pastuszczak M, Jakiela B, Wielowieyska-Szybinska D, Jaworek AK, Zeman J, Wojas-Pelc A.

Sex Transm Dis. 2013 Oct;40(10):808-12. doi: 10.1097/OLQ.0000000000000024.

PMID:
24275734
[PubMed - indexed for MEDLINE]
9.

Novel mutations in the TAZ gene in patients with Barth syndrome.

Mazurová S, Tesařová M, Magner M, Houšťková H, Hansíková H, Augustínová J, Tomek V, Vondráčková A, Zeman J, Honzík T.

Prague Med Rep. 2013;114(3):139-53.

PMID:
24093814
[PubMed - indexed for MEDLINE]
Free Article
10.

Cerebrospinal Fluid Abnormalities in HIV-Negative Patients with Secondary and Early Latent Syphilis and Serum VDRL ≥ 1:32.

Pastuszczak M, Zeman J, Jaworek AK, Wojas-Pelc A.

Indian J Dermatol. 2013 Jul;58(4):325. doi: 10.4103/0019-5154.113941.

PMID:
23919017
[PubMed]
Free PMC Article
11.

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.

Vondráčková A, Veselá K, Kratochvílová H, Kučerová Vidrová V, Vinšová K, Stránecký V, Honzík T, Hansíková H, Zeman J, Tesařová M.

Eur J Hum Genet. 2014 Mar;22(3):431-4. doi: 10.1038/ejhg.2013.148. Epub 2013 Jul 10.

PMID:
23838601
[PubMed - in process]
12.

Natural history of alpha mannosidosis a longitudinal study.

Beck M, Olsen KJ, Wraith JE, Zeman J, Michalski JC, Saftig P, Fogh J, Malm D.

Orphanet J Rare Dis. 2013 Jun 20;8:88. doi: 10.1186/1750-1172-8-88.

PMID:
23786919
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Relationship processes and resilience in children with incarcerated parents.

Poehlmann J, Eddy JM, Dallaire DH, Zeman JL, Myers BJ, Mackintosh V, Kuznetsova MI, Lotze GM, Best AM, Ravindran N, Loper AB, Clarke CN, McHale JP, Salman S, Strozier A, Cecil DK, Martinez CR Jr, Burraston B.

Monogr Soc Res Child Dev. 2013 Jun;78(3):vii-viii, 1-129. doi: 10.1111/mono.12017.

PMID:
23782434
[PubMed - indexed for MEDLINE]
14.

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

Majer F, Pelak O, Kalina T, Vlaskova H, Dvorakova L, Honzik T, Palecek T, Kuchynka P, Masek M, Zeman J, Elleder M, Sikora J.

J Inherit Metab Dis. 2014 Jan;37(1):117-24. doi: 10.1007/s10545-013-9617-z. Epub 2013 May 29.

PMID:
23716275
[PubMed - in process]
15.

Mutations in ANTXR1 cause GAPO syndrome.

Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, Sovová J, Hůlková H, Piherová L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martásek P, Baxová A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S.

Am J Hum Genet. 2013 May 2;92(5):792-9. doi: 10.1016/j.ajhg.2013.03.023. Epub 2013 Apr 18.

PMID:
23602711
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

[Open reduction and plate fixation (ORIF LCP) for treatment of bilateral calcaneal fractures].

Zeman J, Matějka J, Matějka T, Salášek M, Zeman P, Nepraš P.

Acta Chir Orthop Traumatol Cech. 2013;80(2):142-7. Czech.

PMID:
23562259
[PubMed - indexed for MEDLINE]
17.

Association of minor and trace elements with mineralogical constituents of urinary stones: a hard nut to crack in existing studies of urolithiasis.

Kuta J, Machát J, Benová D, Červenka R, Zeman J, Martinec P.

Environ Geochem Health. 2013 Aug;35(4):511-22. doi: 10.1007/s10653-013-9511-5. Epub 2013 Feb 22.

PMID:
23430472
[PubMed - indexed for MEDLINE]
18.

Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.

Réblová K, Hrubá Z, Procházková D, Pazdírková R, Pouchlá S, Zeman J, Fajkusová L.

Clin Chim Acta. 2013 Apr 18;419:1-10. doi: 10.1016/j.cca.2013.01.006. Epub 2013 Jan 26. Erratum in: Clin Chim Acta. 2013 Nov 15;426:157. Zeman, Jiří [added].

PMID:
23357515
[PubMed - indexed for MEDLINE]
19.

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

Storkanova G, Vlaskova H, Chuzhanova N, Zeman J, Stranecky V, Majer F, Peskova K, Luksan O, Jirsa M, Hrebicek M, Dvorakova L.

Clin Genet. 2013 Dec;84(6):552-9. doi: 10.1111/cge.12085. Epub 2013 Feb 7.

PMID:
23278509
[PubMed - in process]
20.

Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male.

Palecek T, Tesarova M, Kuchynka P, Dytrych V, Elleder M, Hulkova H, Hansikova H, Honzik T, Zeman J, Linhart A.

Int Heart J. 2012;53(6):383-7.

PMID:
23258140
[PubMed - indexed for MEDLINE]
Free Article

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