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Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.

Journal of inherited metabolic disease·2007

TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.

Journal of inherited metabolic disease·2006

D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?

Neuropediatrics·2004

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy.

Journal of inherited metabolic disease·2004

Phenotype and genotype variation in primary carnitine deficiency.

Genetics in medicine : official journal of the American College of Medical Genetics·2001

Detection of inhomogeneities in membrane ohmic resistance in geometrically complex systems.

Membrane & cell biology·2001

[On Atomic Nuclear Fusion Processes at Low-Temperatures. An Enhancement of the Probability of Transition through a Potential Barrier Due to the So-Called Barrier Anti-Zeno Effect].

Biofizika·2016

[An Iterative Continuous-Event Model of the Population Outbreak of Phytophagous Hemiptera].

Biofizika·2016

[Providing the Optimal Insolation of a Photobiological Architectural Shell for Microalgae Cultivation].

Biofizika·2016

[Neurodynamic Bases of Imitation Learning and Episodic Memory].

Biofizika·2016

[Some Approaches to Activation of Antitumor Resistance Mechanisms and Functional Analogs in Categories of Synergetics].

Biofizika·2016

[Mechanism of Formation of Cardiac Arrhythmia Due to Pathological Distribution of Myocardium Conductivity].

Biofizika·2016

Low-complexity pixelated terahertz absorber based on a graphene/InSb heterostructure.

RSC advances·2026

Exploratory Analysis of Electrical Impedance Tomography Features Associated with Spirometric Airflow Limitation.

Computational and structural biotechnology journal·2026

SEDAT: A hybrid tokenizer for large EEG models.

Journal of neural engineering·2026

Synergistic Magnetoelectric Janus Films With Hierarchical Interfaces for High-Efficiency EMI Shielding and Multimodal Thermal Management.

Small (Weinheim an der Bergstrasse, Germany)·2026

Averaged sparse local representation for the elimination of pseudo-HFOs from intracranial EEG recording in epilepsy.

International IEEE/EMBS Conference on Neural Engineering : [proceedings]. International IEEE EMBS Conference on Neural Engineering·2026

Mechanical detection of sub-band mobilities of two-dimensional electron gas on reduced SrTiO3(001) surface.

Communications materials·2026

Related Experiment Videos

[Theory of EEG potentials in a model of thin brain integuments. II. Model of a multilayer flat cable]

Related Concept Videos

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.

TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.

D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy.

Phenotype and genotype variation in primary carnitine deficiency.

Detection of inhomogeneities in membrane ohmic resistance in geometrically complex systems.

[On Atomic Nuclear Fusion Processes at Low-Temperatures. An Enhancement of the Probability of Transition through a Potential Barrier Due to the So-Called Barrier Anti-Zeno Effect].

[An Iterative Continuous-Event Model of the Population Outbreak of Phytophagous Hemiptera].

[Providing the Optimal Insolation of a Photobiological Architectural Shell for Microalgae Cultivation].

[Neurodynamic Bases of Imitation Learning and Episodic Memory].

[Some Approaches to Activation of Antitumor Resistance Mechanisms and Functional Analogs in Categories of Synergetics].

[Mechanism of Formation of Cardiac Arrhythmia Due to Pathological Distribution of Myocardium Conductivity].

Low-complexity pixelated terahertz absorber based on a graphene/InSb heterostructure.

Exploratory Analysis of Electrical Impedance Tomography Features Associated with Spirometric Airflow Limitation.

SEDAT: A hybrid tokenizer for large EEG models.

Synergistic Magnetoelectric Janus Films With Hierarchical Interfaces for High-Efficiency EMI Shielding and Multimodal Thermal Management.

Averaged sparse local representation for the elimination of pseudo-HFOs from intracranial EEG recording in epilepsy.

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Related Experiment Videos

[Theory of EEG potentials in a model of thin brain integuments. II. Model of a multilayer flat cable]

Abstract:

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