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Presence of a deletion in the 5′ upstream region of the GALT gene in Duarte (D2) alleles

Journal of medical genetics, 1999-07, Vol.36 (7), p.576-578

1999

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Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations

Journal of medical genetics, 1997-11, Vol.34 (11), p.893-898

1997

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A unique RFLP haplotype at the phenylalanine hydroxylase locus in Czechoslovak Gypsies with phenylketonuria

Functional and developmental morphology, 1992, Vol.2 (2), p.139

1992

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Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: Identification of six novel mutations, including a stop codon mutation (X380R)

Human mutation, 2000-02, Vol.15 (2), p.206-206

2000

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Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome

Journal of paediatrics and child health, 1998-02, Vol.34 (1), p.92-94

1998

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Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU)

American journal of human genetics, 1989-08, Vol.45 (2), p.310-318

1989

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Intellectual and school performance in adolescents with phenylketonuria according to their dietary compliance. The Czech-Slovak Collaborative Study

European journal of pediatrics, 1996-07, Vol.155 Suppl 1 (S1), p.S56-S58

1996

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Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families

Human genetics, 1995-10, Vol.96 (4), p.472-476

1995

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Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia

Journal of inherited metabolic disease, 1993-03, Vol.16 (2), p.451-456

1993

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Multiple origins for phenylketonuria in Europe

American journal of human genetics, 1992-12, Vol.51 (6), p.1355-1365

1992

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Clinical picture of homocystinuria with cystathionine beta-synthase deficiency in 19 Czech and Slovak patients

Časopis lékařů českých, 2000-08, Vol.139 (16), p.500

2000

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Alpha 1-antitrypsin deficiency--a hereditary storage disease of the hepatic endoplasmic reticulum

Československá pediatrie, 1993-10, Vol.48 (10), p.604

1993

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Advances in the diagnosis of phenylketonuria with the introduction of direct detection of PAH gene mutation

Časopis lékařů českých, 1995-06, Vol.134 (12), p.385

1995

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Liver diseases in children with alpha 1-antitrypsin deficiency in infancy

Československá pediatrie, 1992-09, Vol.47 (9), p.538

1992

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Clinical manifestations of alpha 1-antitrypsin deficiency

Československá pediatrie, 1990-01, Vol.45 (1), p.49

1990

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Screening for alpha 1-antitrypsin deficiency in neonates

Československá pediatrie, 1992-04, Vol.47 (4), p.201

1992

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Determination of phenylalanine-4-hydroxylase as a parameter in the differential diagnosis of hyperphenylalaninemia

Československá pediatrie, 1987-09, Vol.42 (9), p.542

1987

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Metachromatic leukodystrophy with a familial incidence; prenatal diagnosis

Československá pediatrie, 1985-05, Vol.40 (5), p.288

1985

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Genetic algorithm designed for optimization of neural network architectures for intracranial EEG recordings analysis

Journal of neural engineering, 2023-06, Vol.20 (3), p.36034

2023

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Radio Modulation Classification Using Deep Learning Architectures

2021 31st International Conference Radioelektronika (RADIOELEKTRONIKA), 2021, p.1-5

2021

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Deep Learning Pipeline for Chromosome Segmentation

2022 32nd International Conference Radioelektronika (RADIOELEKTRONIKA), 2022, p.01-05

2022

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Using Embedding Extractor and Transformer Encoder for Predicting Neurological Recovery from Coma After Cardiac Arrest

2023 Computing in Cardiology (CinC), 2023, Vol.50, p.1-4

2023

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Presence of a deletion in the 5′ upstream region of the GALT gene in Duarte (D2) alleles

Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations

A unique RFLP haplotype at the phenylalanine hydroxylase locus in Czechoslovak Gypsies with phenylketonuria

Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: Identification of six novel mutations, including a stop codon mutation (X380R)

Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU)

Intellectual and school performance in adolescents with phenylketonuria according to their dietary compliance. The Czech-Slovak Collaborative Study

Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families

Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia

Multiple origins for phenylketonuria in Europe

Clinical picture of homocystinuria with cystathionine beta-synthase deficiency in 19 Czech and Slovak patients

Alpha 1-antitrypsin deficiency--a hereditary storage disease of the hepatic endoplasmic reticulum

Advances in the diagnosis of phenylketonuria with the introduction of direct detection of PAH gene mutation

Liver diseases in children with alpha 1-antitrypsin deficiency in infancy

Clinical manifestations of alpha 1-antitrypsin deficiency

Screening for alpha 1-antitrypsin deficiency in neonates

Determination of phenylalanine-4-hydroxylase as a parameter in the differential diagnosis of hyperphenylalaninemia

Metachromatic leukodystrophy with a familial incidence; prenatal diagnosis

Genetic algorithm designed for optimization of neural network architectures for intracranial EEG recordings analysis

Radio Modulation Classification Using Deep Learning Architectures

Deep Learning Pipeline for Chromosome Segmentation

Using Embedding Extractor and Transformer Encoder for Predicting Neurological Recovery from Coma After Cardiac Arrest

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