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A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Kidney international, 2022-02, Vol.101 (2), p.349-359

2022

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System of fuzzy relation equations with inf - → composition: Complete set of solutions

Fuzzy sets and systems, 2008-09, Vol.159 (17), p.2256-2271

2008

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GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy

American journal of human genetics, 2022-10, Vol.109 (10), p.1885-1893

2022

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Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

Human molecular genetics, 2023-09, Vol.32 (18), p.2822-2831

2023

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DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

Brain (London, England : 1878), 2022-06, Vol.145 (5), p.1624-1631

2022

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TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Nature genetics, 2008-11, Vol.40 (11), p.1288-1290

2008

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Autosomal dominant Zellweger Spectrum Disorder caused by de novo variants in PEX14 gene

Genetics in medicine, 2023-11, Vol.25 (11), p.100944-100944, Article 100944

2023

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Dystonia: A novel sign of the Smith-Magenis syndrome – A three-case report

Clinical parkinsonism & related disorders, 2024-01, Vol.11, p.100267, Article 100267

2024

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ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder

Brain communications, 2023-11, Vol.5 (6), p.fcad295-fcad295

2023

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Arithmetic Fuzzy Models

IEEE transactions on fuzzy systems, 2010-12, Vol.18 (6), p.1058-1069

2010

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Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

Molecular genetics & genomic medicine, 2020-07, Vol.8 (7), p.e1238-n/a

2020

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Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene

Prague medical report, 2020, Vol.121 (3), p.153-162

2020

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Expression and processing of the TMEM70 protein

Biochimica et biophysica acta, 2011, Vol.1807 (1), p.144-149

2011

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Novel phenotype of COASY deficiency is characterized by fatal neonatal hepathopathy with severe hypoglycaemia, hyperammonaemia and lactic acidosis

Biochimica et biophysica acta. Bioenergetics, 2024-09, Vol.1865

2024

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ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

Orphanet journal of rare diseases, 2023-04, Vol.18 (1), p.92-92, Article 92

2023

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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

American journal of human genetics, 2011-10, Vol.89 (4), p.589-589

2011

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Integration of Innovative Methods into the Teaching of Literature in Lower-Secondary Schools

The new educational review, 2023, Vol.73 (3), p.175-186

2023

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Integration of Innovative Methods into the Teaching of Literature in Lower-Secondary Schools

The new educational review, 2023 (73), p.175-186

2023

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Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency

BMC genomics, 2008-01, Vol.9 (1), p.38-38, Article 38

2008

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System of fuzzy relation equations with - composition: Complete set of solutions

Fuzzy sets and systems, 2008-09, Vol.159 (17), p.2256-2271

2008

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Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

Human mutation, 2024-01, Vol.2024, p.1-10

2024

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Novel phenotype associated with OPA1 mutations?

Mitochondrion, 2012-09, Vol.12 (5), p.559

2012

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Primary AA Amyloidosis due to a chr11:18287683 T>C (hg19) Mutation in the SAA1 Promoter Linked to the Amyloidogenic SAA1.1 Haplotype: PO1335

Journal of the American Society of Nephrology, 2021-10, Vol.32 (10S), p.427-427

2021

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The influence of pore size on colonization of poly(l-lactide-glycolide) scaffolds with human osteoblast-like MG 63 cells in vitro

Journal of materials science. Materials in medicine, 2008, Vol.19 (1), p.425-435

2008

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Detection of viral infections by an oligonucleotide microarray

Journal of virological methods, 2010-04, Vol.165 (1), p.64-70

2010

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A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

System of fuzzy relation equations with inf - → composition: Complete set of solutions

GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Autosomal dominant Zellweger Spectrum Disorder caused by de novo variants in PEX14 gene

Dystonia: A novel sign of the Smith-Magenis syndrome – A three-case report

ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder

Arithmetic Fuzzy Models

Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene

Expression and processing of the TMEM70 protein

Novel phenotype of COASY deficiency is characterized by fatal neonatal hepathopathy with severe hypoglycaemia, hyperammonaemia and lactic acidosis

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Integration of Innovative Methods into the Teaching of Literature in Lower-Secondary Schools

Integration of Innovative Methods into the Teaching of Literature in Lower-Secondary Schools

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency

System of fuzzy relation equations with - composition: Complete set of solutions

Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

Novel phenotype associated with OPA1 mutations?

Primary AA Amyloidosis due to a chr11:18287683 T>C (hg19) Mutation in the SAA1 Promoter Linked to the Amyloidogenic SAA1.1 Haplotype: PO1335

The influence of pore size on colonization of poly(l-lactide-glycolide) scaffolds with human osteoblast-like MG 63 cells in vitro

Detection of viral infections by an oligonucleotide microarray

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