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Determination of cationic neurotransmitters and metabolites in brain homogenates by microchip electrophoresis and carbon nanotube-modified amperometry

Journal of Chromatography A, 2007-02, Vol.1142 (2), p.214-221

2007

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Pharmaceutical applications of isoelectric focusing on microchip with imaged UV detection

Journal of Chromatography A, 2008-02, Vol.1181 (1), p.145-152

2008

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A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy

American journal of medical genetics. Part A, 2021-05, Vol.185 (5), p.1363-1365

2021

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Technological relatedness, knowledge space and smart specialisation: The case of Germany

Moravian geographical reports, 2018-06, Vol.26 (2), p.95-108

2018

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Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome

Acta neuropathologica, 2020-04, Vol.139 (4), p.795-797

2020

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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

American journal of human genetics, 2019-11, Vol.105 (5), p.987-995

2019

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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

American journal of human genetics, 2021-05, Vol.108 (5), p.857-873

2021

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A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation

Molecular genetics & genomic medicine, 2023-06, Vol.11 (6), p.e2154-n/a

2023

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A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people

Frontiers in medicine, 2023-02, Vol.10, p.1096869-1096869

2023

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A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature

Molecular cytogenetics, 2018-05, Vol.11 (1), p.29-7, Article 29

2018

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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

American journal of human genetics, 2019-08, Vol.105 (2), p.283-301

2019

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Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases

Pediatrics (Evanston), 2012-02, Vol.129 (2), p.e523-e528

2012

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A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation

American journal of medical genetics. Part A, 2023-03, Vol.191 (3), p.870-877

2023

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BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

The Journal of clinical investigation, 2015-06, Vol.125 (6), p.2363-2368

2015

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Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel

European journal of paediatric neurology, 2024-01, Vol.48, p.17-29

2024

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A progressive KY myopathy could be caused by a missense pathogenic variant

Clinical genetics, 2023-06, Vol.103 (6), p.723-725

2023

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Microchip Isoelectric Focusing Applications

Chimia, 2008-01, Vol.62 (4), p.244

2008

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Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

Human mutation, 2018-05, Vol.39 (5), p.709-716

2018

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HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

Human molecular genetics, 2015-06, Vol.24 (12), p.3335-3347

2015

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Genetic testing in children enrolled in epilepsy surgery program. A real-life study

European journal of paediatric neurology, 2023-11, Vol.47, p.80-87

2023

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Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome

Clinical & experimental ophthalmology, 2016-12, Vol.44 (9), p.757-762

2016

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GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?

European journal of paediatric neurology, 2021-01, Vol.30, p.88-96

2021

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Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype

European journal of medical genetics, 2018-06, Vol.61 (6), p.315-321

2018

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A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B -related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes

European journal of medical genetics, 2015-10, Vol.58 (10), p.550-555

2015

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Determination of cationic neurotransmitters and metabolites in brain homogenates by microchip electrophoresis and carbon nanotube-modified amperometry

Pharmaceutical applications of isoelectric focusing on microchip with imaged UV detection

A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Technological relatedness, knowledge space and smart specialisation: The case of Germany

Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation

A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases

A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel

A progressive KY myopathy could be caused by a missense pathogenic variant

Microchip Isoelectric Focusing Applications

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

Genetic testing in children enrolled in epilepsy surgery program. A real-life study

Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome

GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?

Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B -related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes

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