Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia

A systematic review and meta-analysis of germline BRCA mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing.

ESMO open·2023

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.

Journal of the European Academy of Dermatology and Venereology : JEADV·2022

Baseline factors associated with early and late death in intracerebral haemorrhage survivors.

European journal of neurology·2020

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

European journal of neurology·2019

Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.

European journal of neurology·2019

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.

Molecular psychiatry·2018

Single-allele nanoscale mapping of regulatory variants.

Nature genetics·2026

Reactivation of the embryonic ζ-globin gene ameliorates severe forms of α-thalassemia.

Nature genetics·2026

ArchMap is a web-based platform for reference-based analysis of single-cell datasets.

Nature genetics·2026

Single-cell profiling and genetic regulation of alternative polyadenylation in the human brain.

Nature genetics·2026

Lineage identity governs oncogene dependence in mouse NSCLC models of KRAS inhibitor resistance.

Nature genetics·2026

CCNB1IP1 regulatory evolution underlies gradual increases in cortical size and folding in primates.

Nature genetics·2026

Improving Multi-Delay-ASL through specialized reconstruction.

ArXiv·2026

HAD-MSF: Multi-domain neural fusion with state-space and graph modeling for hyperspectral anomaly detection.

Neural networks : the official journal of the International Neural Network Society·2026

Geographic Disparities and Socioeconomic Barriers to Electroconvulsive Therapy in the United States: A Nationwide GIS Analysis and Manual Audit.

The journal of ECT·2026

A Dataset of Temporally Consistent Instance Annotations for 4D Plant Phenotyping.

Scientific data·2026

Discrimination of black gel pen inks by hyperspectral imaging combined with logistic regression.

Analytical methods : advancing methods and applications·2026

Generation of Ultrasonic Data Through High-Order Interpolation.

IEEE transactions on ultrasonics·2026

Related Experiment Videos

Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia

Related Concept Videos

A systematic review and meta-analysis of germline BRCA mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing.

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.

Baseline factors associated with early and late death in intracerebral haemorrhage survivors.

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.

Single-allele nanoscale mapping of regulatory variants.

Reactivation of the embryonic ζ-globin gene ameliorates severe forms of α-thalassemia.

ArchMap is a web-based platform for reference-based analysis of single-cell datasets.

Single-cell profiling and genetic regulation of alternative polyadenylation in the human brain.

Lineage identity governs oncogene dependence in mouse NSCLC models of KRAS inhibitor resistance.

CCNB1IP1 regulatory evolution underlies gradual increases in cortical size and folding in primates.

Improving Multi-Delay-ASL through specialized reconstruction.

HAD-MSF: Multi-domain neural fusion with state-space and graph modeling for hyperspectral anomaly detection.

Geographic Disparities and Socioeconomic Barriers to Electroconvulsive Therapy in the United States: A Nationwide GIS Analysis and Manual Audit.

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Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia

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