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Enzyme replacement therapy for Gaucher disease in twin pregnancy
- Published in:
- 2009
- By:
- Publication type:
- journal article
Substantially Altered Expression Profile of Diabetes/Cardiovascular/Cerebrovascular Disease Associated microRNAs in Children Descending from Pregnancy Complicated by Gestational Diabetes Mellitus—One of Several Possible Reasons for an Increased Cardiovascular Risk
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 6, p. 1557, doi. 10.3390/cells9061557
- By:
- Publication type:
- Article
Assessment of placental and maternal stress responses in patients with pregnancy related complications via monitoring of heat shock protein mRNA levels.
- Published in:
- Actual Gynecology & Obstetrics / Aktuální Gynekologie a Porodnictví, 2015, v. 7, p. 2
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- Publication type:
- Article
Light sedation with short habituation time for large‐scale functional magnetic resonance imaging studies in rats.
- Published in:
- NMR in Biomedicine, 2022, v. 35, n. 6, p. 1, doi. 10.1002/nbm.4679
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- Publication type:
- Article
Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2017, v. 55, n. 8, p. 1168, doi. 10.1515/cclm-2016-0715
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- Publication type:
- Article
Expression profile of heat shock proteins in placental tissues of patients with preterm prelabor rupture of membranes and spontaneous preterm labor with intact membranes.
- Published in:
- American Journal of Reproductive Immunology, 2017, v. 78, n. 4, p. n/a, doi. 10.1111/aji.12698
- By:
- Publication type:
- Article
Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 19, p. 14440, doi. 10.3390/ijms241914440
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- Publication type:
- Article
Diabetes Mellitus and Cardiovascular Risk Assessment in Mothers with a History of Gestational Diabetes Mellitus Based on Postpartal Expression Profile of MicroRNAs Associated with Diabetes Mellitus and Cardiovascular and Cerebrovascular Diseases.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2437, doi. 10.3390/ijms21072437
- By:
- Publication type:
- Article
Evaluation of Vascular Endothelial Function in Young and Middle-Aged Women with Respect to a History of Pregnancy, Pregnancy-Related Complications, Classical Cardiovascular Risk Factors, and Epigenetics.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 2, p. 1, doi. 10.3390/ijms21020430
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- Publication type:
- Article
The Prediction of Gestational Hypertension, Preeclampsia and Fetal Growth Restriction via the First Trimester Screening of Plasma Exosomal C19MC microRNAs.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 12, p. 2972, doi. 10.3390/ijms20122972
- By:
- Publication type:
- Article
Postnatal Expression Profile of microRNAs Associated with Cardiovascular and Cerebrovascular Diseases in Children at the Age of 3 to 11 Years in Relation to Previous Occurrence of Pregnancy-Related Complications.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 3, p. 654, doi. 10.3390/ijms20030654
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- Publication type:
- Article
Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.
- Published in:
- 2008
- By:
- Publication type:
- Report
Relationships between bird species richness and different facets of landscape heterogeneity -- insights from a military area.
- Published in:
- Journal of Vertebrate Biology, 2023, v. 72, n. 23012, p. 1, doi. 10.25225/jvb.23012
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- Publication type:
- Article
Indel in the FIC1/ATP8B1 gene—a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis
- Published in:
- Hepatology Research, 2004, v. 30, n. 1, p. 1, doi. 10.1016/j.hepres.2004.05.001
- By:
- Publication type:
- Article
Hybrid proline-rich proteins: novel players in plant cell elongation?
- Published in:
- Annals of Botany, 2012, v. 109, n. 2, p. 453
- By:
- Publication type:
- Article
Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.
- Published in:
- Genes, 2021, v. 12, n. 11, p. 1816, doi. 10.3390/genes12111816
- By:
- Publication type:
- Article
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
- Published in:
- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 1, p. 61, doi. 10.1111/aos.14478
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- Publication type:
- Article
Periodické horečky a jiná autoinflamatorní onemocnění.
- Published in:
- Journal of Czech Physicians / Časopis Lékařů Českých, 2018, v. 157, n. 3, p. 122
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- Publication type:
- Article
Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Mediace jako instituce v současné české legislativě.
- Published in:
- Czech & Slovak Social Work / Sociální Práce / Sociálna Práca, 2019, v. 19, n. 6, p. 127
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- Publication type:
- Article
Mediace jako metoda sociální práce, nebo samostatný vzor jednání?
- Published in:
- Czech & Slovak Social Work / Sociální Práce / Sociálna Práca, 2019, v. 19, n. 5, p. 70
- By:
- Publication type:
- Article
X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052635
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- Publication type:
- Article
Population‐specific validation and comparison of the performance of 77‐ and 313‐variant polygenic risk scores for breast cancer risk prediction.
- Published in:
- Cancer (0008543X), 2024, v. 130, n. 17, p. 2978, doi. 10.1002/cncr.35337
- By:
- Publication type:
- Article
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Circulating heat shock protein mRNA profile in gestational hypertension, pre-eclampsia & foetal growth restriction.
- Published in:
- Indian Journal of Medical Research, 2016, v. 144, n. 2, p. 229, doi. 10.4103/0971-5916.195037
- By:
- Publication type:
- Article
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 117, doi. 10.1007/s10545-013-9617-z
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- Publication type:
- Article
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA.
- Published in:
- European Journal of Pediatrics, 2012, v. 171, n. 8, p. 1223, doi. 10.1007/s00431-012-1747-z
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- Publication type:
- Article
The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 387, doi. 10.1007/s10545-010-9093-7
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- Publication type:
- Article
Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.
- Published in:
- Human Mutation, 2010, v. 31, n. 4, p. E1294, doi. 10.1002/humu.21215
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- Publication type:
- Article
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 3, p. 810, doi. 10.1093/brain/awn366
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- Publication type:
- Article
Assessment of placental and maternal stress responses in patients with pregnancy related complications via monitoring of heat shock protein mRNA levels.
- Published in:
- Molecular Biology Reports, 2015, v. 42, n. 3, p. 625, doi. 10.1007/s11033-014-3808-z
- By:
- Publication type:
- Article
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population.
- Published in:
- Journal of Molecular Medicine, 2005, v. 83, n. 8, p. 647, doi. 10.1007/s00109-005-0656-2
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- Publication type:
- Article
Maternal Cardiovascular Risk Assessment 3-to-11 Years Postpartum in Relation to Previous Occurrence of Pregnancy-Related Complications.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 4, p. 544, doi. 10.3390/jcm8040544
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- Publication type:
- Article
Pitfalls of X‐chromosome inactivation testing in females with Fabry disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1979, doi. 10.1002/ajmg.a.62728
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- Publication type:
- Article
Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 219, doi. 10.1002/ajmg.a.61416
- By:
- Publication type:
- Article
LAMP2 exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2430, doi. 10.1002/ajmg.a.40430
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- Publication type:
- Article
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The coincidence of IgA nephropathy and Fabry disease.
- Published in:
- BMC Nephrology, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2369-14-6
- By:
- Publication type:
- Article