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Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1

Brain & development (Tokyo. 1979), 2021-01, Vol.43 (1), p.144-151

2021

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A rare tubulopathy: Dent's disease in the background of focal segmental glomerular sclerosis

Orvosi hetilap, 2023-05, Vol.164 (20), p.788

2023

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Correction to: Eye-tracking-aided characterization of saccades and antisaccades in SYNE1 ataxia patients: a pilot study

BMC neuroscience, 2021-03, Vol.22 (1), p.16-16, Article 16

2021

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A Patient Diagnosed with Mosaic Trisomy 18 Presenting New Symptoms: Diaphragmatic Relaxation and Cyclic Vomiting Syndrome. Updated Review of Mosaic Trisomy 18 Cases

Journal of pediatric genetics (Birmingham, Ala.), 2022-12

2022

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Usefulness of combined genetic data in Hungarian families affected by autosomal dominant polycystic kidney disease

Molecular and cellular probes, 2009-02, Vol.23 (1), p.39-43

2009

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Heme oxygenase-1 expression in premature and mature neonates during the first week of life

European journal of pediatrics, 2007-10, Vol.166 (10), p.1033-1038

2007

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correctKin: an optimized method to infer relatedness up to the 4th degree from low-coverage ancient human genomes

Genome Biology, 2023-02, Vol.24 (1), p.38-21, Article 38

2023

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Cerebrospinal Fluid Neurofilament Light Chain Is Associated with Kynurenine Pathway Metabolite Changes in Multiple Sclerosis

International journal of molecular sciences, 2020-04, Vol.21 (8), p.2665

2020

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The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases

International journal of molecular sciences, 2024-01, Vol.25 (2), p.966

2024

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Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation

Cerebellum (London, England), 2017-12, Vol.16 (5-6), p.979-985

2017

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High-Coverage Whole-Exome Sequencing Identifies Candidate Genes for Suicide in Victims with Major Depressive Disorder

Scientific reports, 2017-08, Vol.7 (1), p.7106-11, Article 7106

2017

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Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.45-45, Article 45

2021

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Phenotypic and Genotypic Features of the FAN1 Mutation-Related Disease in a Large Hungarian Family

International journal of molecular sciences, 2024-06, Vol.25 (11), p.5907

2024

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Phenotype-Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis

International journal of molecular sciences, 2023-12, Vol.24 (24), p.17489

2023

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Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third

European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.164-172

2021

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Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis

BMC genomics, 2018-10, Vol.19 (1), p.778-778, Article 778

2018

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Mitogenomic data indicate admixture components of Central-Inner Asian and Srubnaya origin in the conquering Hungarians

PloS one, 2018-10, Vol.13 (10), p.e0205920-e0205920

2018

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Time course profiling of host cell response to herpesvirus infection using nanopore and synthetic long-read transcriptome sequencing

Scientific reports, 2021-07, Vol.11 (1), p.14219-14219, Article 14219

2021

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Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene

International journal of molecular sciences, 2023-01, Vol.24 (3), p.2617

2023

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Revising mtDNA haplotypes of the ancient Hungarian conquerors with next generation sequencing

PloS one, 2017-04, Vol.12 (4), p.e0174886-e0174886

2017

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Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report

BMC pediatrics, 2023-03, Vol.23 (1), p.110-110, Article 110

2023

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Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability

Journal of human genetics, 2018-11, Vol.63 (11), p.1189-1193

2018

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Y-chromosome haplogroups from Hun, Avar and conquering Hungarian period nomadic people of the Carpathian Basin

Scientific reports, 2019-11, Vol.9 (1), p.16569-12, Article 16569

2019

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Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2018-09, Vol.6 (5), p.1769-1771.e2

2018

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Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1

A rare tubulopathy: Dent's disease in the background of focal segmental glomerular sclerosis

Correction to: Eye-tracking-aided characterization of saccades and antisaccades in SYNE1 ataxia patients: a pilot study

A Patient Diagnosed with Mosaic Trisomy 18 Presenting New Symptoms: Diaphragmatic Relaxation and Cyclic Vomiting Syndrome. Updated Review of Mosaic Trisomy 18 Cases

Usefulness of combined genetic data in Hungarian families affected by autosomal dominant polycystic kidney disease

Heme oxygenase-1 expression in premature and mature neonates during the first week of life

correctKin: an optimized method to infer relatedness up to the 4th degree from low-coverage ancient human genomes

Cerebrospinal Fluid Neurofilament Light Chain Is Associated with Kynurenine Pathway Metabolite Changes in Multiple Sclerosis

The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases

Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation

High-Coverage Whole-Exome Sequencing Identifies Candidate Genes for Suicide in Victims with Major Depressive Disorder

Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family

Phenotypic and Genotypic Features of the FAN1 Mutation-Related Disease in a Large Hungarian Family

Phenotype-Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis

Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third

Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis

Mitogenomic data indicate admixture components of Central-Inner Asian and Srubnaya origin in the conquering Hungarians

Time course profiling of host cell response to herpesvirus infection using nanopore and synthetic long-read transcriptome sequencing

Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene

Revising mtDNA haplotypes of the ancient Hungarian conquerors with next generation sequencing

Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report

The genetic origin of Huns, Avars, and conquering Hungarians

Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability

Y-chromosome haplogroups from Hun, Avar and conquering Hungarian period nomadic people of the Carpathian Basin

Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies

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