Sequencing of the Alzheimer's APP gene Dutch variant (APP-D)

Conformation as therapeutic target in the prionoses and other neurodegenerative conditions.

Methods in molecular medicine·2011

Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of disease.

Neuropathology and applied neurobiology·2008

Molecular chaperons, amyloid and preamyloid lesions in the BRI2 gene-related dementias: a morphological study.

Neuropathology and applied neurobiology·2006

Genetic alterations of the BRI2 gene: familial British and Danish dementias.

Brain pathology (Zurich, Switzerland)·2006

Chromosome 13 dementias.

Cellular and molecular life sciences : CMLS·2005

Substitution at codon 22 reduces clearance of Alzheimer's amyloid-beta peptide from the cerebrospinal fluid and prevents its transport from the central nervous system into blood.

Neurobiology of aging·2002

Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants.

Human mutation·2026

First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 Deletion.

Human mutation·2026

TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation.

Human mutation·2026

Association Between Mutation Context-Associated RUNX1 Transcriptional States and Immune-Stromal Heterogeneity in Nonsmall Cell Lung Cancer.

Human mutation·2026

The Role of Genetic Variation in Phenotypic Variability in Loeys-Dietz Syndrome.

Human mutation·2026

Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.

Human mutation·2026

Mercury vapor generation using a non-equilibrium cold atmospheric plasma jet for mercury determination equipped with atomic absorption spectrometry.

RSC advances·2026

Genomic Confirmation of HLA-A*02:94N By Next-Generation Sequencing.

HLA·2026

Green auto-combustion derived V-type hexagonal ferrite nanoparticles: local atomic structure by XAFS and dual magnetic-electrochemical caffeine sensing properties.

RSC advances·2026

Real-Time Monitoring of Tablet API Concentration and Bioavailability via Dissolution Kinetics in Simulated Stomach Fluid by T-Ray Transmission Technique.

AAPS PharmSciTech·2026

Complementarity of portable and benchtop near-infrared spectrometers for microplastic predictive detection in whole camel milk powder.

Journal of dairy science·2026

Fluorescent Chemosensors as Precision Tools for Bioimaging and Environmental Monitoring: Advances, Challenges, and Future Directions.

Journal of fluorescence·2026

Related Experiment Videos

Sequencing of the Alzheimer's APP gene Dutch variant (APP-D)

Related Concept Videos

Conformation as therapeutic target in the prionoses and other neurodegenerative conditions.

Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of disease.

Molecular chaperons, amyloid and preamyloid lesions in the BRI2 gene-related dementias: a morphological study.

Genetic alterations of the BRI2 gene: familial British and Danish dementias.

Chromosome 13 dementias.

Substitution at codon 22 reduces clearance of Alzheimer's amyloid-beta peptide from the cerebrospinal fluid and prevents its transport from the central nervous system into blood.

Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants.

First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 Deletion.

TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation.

Association Between Mutation Context-Associated RUNX1 Transcriptional States and Immune-Stromal Heterogeneity in Nonsmall Cell Lung Cancer.

The Role of Genetic Variation in Phenotypic Variability in Loeys-Dietz Syndrome.

Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.

Mercury vapor generation using a non-equilibrium cold atmospheric plasma jet for mercury determination equipped with atomic absorption spectrometry.

Genomic Confirmation of HLA-A*02:94N By Next-Generation Sequencing.

Green auto-combustion derived V-type hexagonal ferrite nanoparticles: local atomic structure by XAFS and dual magnetic-electrochemical caffeine sensing properties.

Real-Time Monitoring of Tablet API Concentration and Bioavailability via Dissolution Kinetics in Simulated Stomach Fluid by T-Ray Transmission Technique.

Complementarity of portable and benchtop near-infrared spectrometers for microplastic predictive detection in whole camel milk powder.

Fluorescent Chemosensors as Precision Tools for Bioimaging and Environmental Monitoring: Advances, Challenges, and Future Directions.

Related Experiment Videos

Sequencing of the Alzheimer's APP gene Dutch variant (APP-D)

Related Concept Videos

Related Articles