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An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome

Diabetologia, 1993-11, Vol.36 (11), p.1168-1174

1993

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An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene assocaited with severe insulin resistance in a patient with Rabson-Mendenhall syndrome

Diabetologia, 1993, Vol.36 (11), p.1168-1174

1993

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Brain-computer interfaces for 1-D and 2-D cursor control: designs using volitional control of the EEG spectrum or steady-state visual evoked potentials

IEEE transactions on neural systems and rehabilitation engineering, 2006-06, Vol.14 (2), p.225-229

2006

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AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect

Human genetics, 2020-10, Vol.139 (10), p.1247-1259

2020

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Highly Elevated Plasma γ‐Glutamyltransferase Elevations: A Trait Caused by γ‐Glutamyltransferase 1 Transmembrane Mutations

Hepatology (Baltimore, Md.), 2020-03, Vol.71 (3), p.1124-1127

2020

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ID 290 – Differences in sleep microstate curves among healthy sleepers and patients after stroke

Clinical neurophysiology, 2016-03, Vol.127 (3), p.e126-e126

2016

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Feature clustering of intracranial pressure time series for alarm function estimation in traumatic brain injury

Physiological measurement, 2017-10, Vol.38 (11), p.2015-2043

2017

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Feature clustering of intracranial pressure time series for alarm function estimation in traumatic brain injury

Physiological measurement, 2017-11, Vol.38 (11), p.2015

2017

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ID 306 – Mirror-box training in healthy subjects and a patient with hemiparesis

Clinical neurophysiology, 2016-03, Vol.127 (3), p.e53-e53

2016

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Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C

Gut, 2016-08, Vol.65 (8), p.1306-1313

2016

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Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea

American journal of human genetics, 2009-02, Vol.84 (2), p.188-196

2009

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Analbuminemia in a Slovak Romany (gypsy) family: Case report and mutational analysis

Clinica chimica acta, 2006-03, Vol.365 (1), p.188-193

2006

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Kernel PCA for Feature Extraction and De-Noising in Nonlinear Regression

Neural computing & applications, 2001-01, Vol.10 (3), p.231-243

2001

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An Expectation-Maximization Approach to Nonlinear Component Analysis

Neural computation, 2001-03, Vol.13 (3), p.505-510

2001

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A Novel Deficiency of Mitochondrial ATPase of Nuclear Origin

Human molecular genetics, 1999-10, Vol.8 (11), p.1967-1974

1999

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Multimodal neuroelectric interface development

IEEE transactions on neural systems and rehabilitation engineering, 2003-06, Vol.11 (2), p.199-203

2003

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In frame deletion of glycin 390 in coproporphyrinogen oxidase gene as a cause of hereditary coproporphyria

Journal of hepatology, 2001-04, Vol.34, p.224

Rosipal, R

2001

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Importance of the time alignment of the sleep probabilistic curves

2017 11th International Conference on Measurement, 2017, p.27-30

2017

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Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update

Human mutation, 1999, Vol.13 (1), p.44-53

1999

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Spectral, complexity and interdependence measures of sleep EEG after ischemic stroke

2017 11th International Conference on Measurement, 2017, p.245-249

2017

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Neonatal hemolytic anemia due to inherited harderoporphyria : Clinical characteristics and molecular basis

Blood, 1998-02, Vol.91 (4), p.1453-1457

1998

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Protoporphyrinogen Oxidase: Complete Genomic Sequence and Polymorphisms in the Human Gene

Biochemical and biophysical research communications, 1996-09, Vol.226 (1), p.226-230

1996

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Prediction of Chaotic Time-Series with a Resource-Allocating RBF Network

Neural processing letters, 1998-06, Vol.7 (3), p.185-197

1998

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Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis

Clinica chimica acta, 1999, Vol.279 (1), p.133-143

1999

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In frame deletion of glycin 390 in coproporphyrinogen oxidase gene as a cause of hereditary coproporphyria

Journal of hepatology, 2001-04, Vol.34, p.223-224

2001

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An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome

An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene assocaited with severe insulin resistance in a patient with Rabson-Mendenhall syndrome

Brain-computer interfaces for 1-D and 2-D cursor control: designs using volitional control of the EEG spectrum or steady-state visual evoked potentials

AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect

Highly Elevated Plasma γ‐Glutamyltransferase Elevations: A Trait Caused by γ‐Glutamyltransferase 1 Transmembrane Mutations

ID 290 – Differences in sleep microstate curves among healthy sleepers and patients after stroke

Feature clustering of intracranial pressure time series for alarm function estimation in traumatic brain injury

Feature clustering of intracranial pressure time series for alarm function estimation in traumatic brain injury

ID 306 – Mirror-box training in healthy subjects and a patient with hemiparesis

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C

Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea

Analbuminemia in a Slovak Romany (gypsy) family: Case report and mutational analysis

Kernel PCA for Feature Extraction and De-Noising in Nonlinear Regression

An Expectation-Maximization Approach to Nonlinear Component Analysis

A Novel Deficiency of Mitochondrial ATPase of Nuclear Origin

Multimodal neuroelectric interface development

In frame deletion of glycin 390 in coproporphyrinogen oxidase gene as a cause of hereditary coproporphyria

Importance of the time alignment of the sleep probabilistic curves

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update

Spectral, complexity and interdependence measures of sleep EEG after ischemic stroke

Neonatal hemolytic anemia due to inherited harderoporphyria : Clinical characteristics and molecular basis

Protoporphyrinogen Oxidase: Complete Genomic Sequence and Polymorphisms in the Human Gene

Prediction of Chaotic Time-Series with a Resource-Allocating RBF Network

Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis

In frame deletion of glycin 390 in coproporphyrinogen oxidase gene as a cause of hereditary coproporphyria

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