Found: 24
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Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic.
- Published in:
- Clinical Genetics, 2014, v. 86, n. 6, p. 564, doi. 10.1111/cge.12323
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- Publication type:
- Article
Hereditární leiomyomatóza a renální karcinom - HLRCC / Mnohočetná kožní a děložní leiomyomatóza - MCUL.
- Published in:
- Journal of the Czech & Slovak Societies for Oncology / Klinická Onkologie, 2012, p. 555
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- Publication type:
- Article
Fumaráza jako tumor supresor: analýza souboru 44 pacientek s děložním leiomyomem.
- Published in:
- Journal of Czech Physicians / Časopis Lékařů Českých, 2013, v. 152, n. 3, p. 148
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- Publication type:
- Article
Sekvenování nové generace v diagnostice mitochondriálních onemocnění - první zkušenosti.
- Published in:
- Journal of Czech Physicians / Časopis Lékařů Českých, 2013, v. 152, n. 3, p. 141
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- Publication type:
- Article
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.
- Published in:
- Folia Biologica (00155500), 2019, v. 65, n. 3, p. 134, doi. 10.14712/fb2019065030134
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- Publication type:
- Article
Ultrastructure of hydathode trichomes of hemiparasitic Rhinanthus alectorolophus and Odontites vernus: how important is their role in physiology and evolution of parasitism in Orobanchaceae?
- Published in:
- Plant Biology, 2013, v. 15, n. 1, p. 119, doi. 10.1111/j.1438-8677.2012.00610.x
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- Publication type:
- Article
Aktivita fosfomanomutázy 2 u pacientů s podezřením na dědičnou poruchu glykosylace.
- Published in:
- Klinická Biochemie a Metabolismus, 2016, v. 24, n. 2, p. 67
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- Publication type:
- Article
Comparison of narrow-band imaging with autofluorescence imaging for endoscopic detection of squamous cell carcinoma of the tonsil.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2023, v. 280, n. 11, p. 5073, doi. 10.1007/s00405-023-08111-9
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- Publication type:
- Article
Changes in Transcription Pattern Lead to a Marked Decrease in COX, CS and SQR Activity After the Developmental Point of the 22<sup>nd</sup> Gestational Week.
- Published in:
- Physiological Research, 2018, v. 67, n. 1, p. 79, doi. 10.33549/physiolres.933542
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- Publication type:
- Article
Analysis of Expression Profiles of Genes Involved in F<sub>o</sub>F<sub>1</sub>-ATP Synthase Biogenesis During Perinatal Development in Rat Liver and Skeletal Muscle.
- Published in:
- Physiological Research, 2016, v. 65, n. 4, p. 597, doi. 10.33549/physiolres.933126
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- Publication type:
- Article
The Developmental Changes in Mitochondrial DNA Content per Cell in Human Cord Blood Leukocytes during Gestation.
- Published in:
- Physiological Research, 2008, v. 57, n. 6, p. 947, doi. 10.33549/physiolres.931246
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- Publication type:
- Article
Biogenesis of Eukaryotic Cytochrome c Oxidase.
- Published in:
- Physiological Research, 2006, v. 55, p. S27, doi. 10.33549/physiolres.930000.55.s2.27
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- Publication type:
- Article
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
- Published in:
- 2006
- By:
- Publication type:
- journal article
The effect of preincubation during egg storage on embryo development of young parent stock.
- Published in:
- 2017
- By:
- Publication type:
- Abstract
Fumaric aciduria: Mild phenotype in a 8-year-old girl with novel mutations.
- Published in:
- 2006
- By:
- Publication type:
- Report
Deficit fosfomanomutázy 2: klinická, biochemická a molekulárně-genetická charakteristika 22 pacientů diagnostikovaných v České republice.
- Published in:
- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2018, v. 73, n. 6, p. 365
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- Publication type:
- Article
MELAS SYNDROM NEJSOU JENOM IKTU PODOBNÉ PŘÍHODY.
- Published in:
- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2012, v. 67, n. 5, p. 355
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- Publication type:
- Article
Microbial biomass of a grassland soil as estimated by the fumigation and direct counting methods.
- Published in:
- Folia Microbiologica, 1984, v. 29, n. 2, p. 189, doi. 10.1007/BF02872936
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- Publication type:
- Article
Dominantní (Kjerova) atrofie optiku asociovaná s mutacemi v OPA1 genu.
- Published in:
- Česká a Slovenská Neurologie a Neurochirurgie, 2020, v. 83, n. 1, p. 33
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- Publication type:
- Article
Leberova hereditární neuropatie optiku.
- Published in:
- Česká a Slovenská Neurologie a Neurochirurgie, 2017, v. 80, n. 5, p. 534, doi. 10.14735/amcsnn2017534
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- Publication type:
- Article
Ušní chirurgie v České republice.
- Published in:
- Otorhinolaryngology & Phoniatrics / Otorinolaryngologie a Foniatrie, 2021, v. 70, n. 2, p. 116, doi. 10.48095/ccorl2021116
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- Publication type:
- Article
Novel Mutations in the TAZ Gene in Patients with Barth Syndrome.
- Published in:
- Prague Medical Report, 2013, v. 114, n. 3, p. 139, doi. 10.14712/23362936.2014.16
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- Publication type:
- Article
Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency.
- Published in:
- Prague Medical Report, 2012, v. 113, n. 2, p. 136, doi. 10.14712/23362936.2015.28
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- Publication type:
- Article
Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene.
- Published in:
- 2004
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- Publication type:
- journal article