A de novo deletion in FMR1 in a patient with developmental delay

Regulation and function of WASp in platelets by the collagen receptor, glycoprotein VI.

Blood·1999

Retrovirus-mediated WASP gene transfer corrects defective actin polymerization in B cell lines from Wiskott-Aldrich syndrome patients carrying 'null' mutations.

Gene therapy·1999

Alternative splicing in the murine and human FXR1 genes.

Genomics·1999

The thrombocytopenia of Wiskott Aldrich syndrome is not related to a defect in proplatelet formation.

Blood·1999

Cue set size effects: sampling activated associates or cross-target interference?

Memory & cognition·1999

Development of fluorine-18-labeled 5-HT1A antagonists.

Journal of medicinal chemistry·1999

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

Human molecular genetics·2026

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

Human molecular genetics·2026

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

Human molecular genetics·2026

BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy.

Human molecular genetics·2026

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Human molecular genetics·2026

Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

Human molecular genetics·2026

An nnU-Net-based framework with adaptive feature representation for 3D brain tumor segmentation.

Quantitative imaging in medicine and surgery·2026

Novel approach to nipple reconstruction: First male FixNip prosthesis implantation.

JPRAS open·2026

Microglia-targeted Panax notoginseng polysaccharide nanoparticles alleviate Alzheimer's disease via AMPK-mTOR/HIF-1α-mediated immunometabolic reprogramming.

Materials today. Bio·2026

Artificial Intelligence-Driven Multi-Omics Analysis Reveals Hydroxytyrosol Targeting of the TXNIP-NLRP3 Inflammasome Axis in Traumatic Brain Injury.

European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences·2026

Longitudinal NODDI-DTI assessment of brain recovery following CPAP in obstructive sleep apnea: Tissue-compartment changes in white and gray matter.

Sleep medicine·2026

Brain organoids, high-density MEAs, and deep learning: A new paradigm for functional neurobiomarker discovery.

Computers in biology and medicine·2026

Related Experiment Videos

A de novo deletion in FMR1 in a patient with developmental delay

Related Concept Videos

Regulation and function of WASp in platelets by the collagen receptor, glycoprotein VI.

Retrovirus-mediated WASP gene transfer corrects defective actin polymerization in B cell lines from Wiskott-Aldrich syndrome patients carrying 'null' mutations.

Alternative splicing in the murine and human FXR1 genes.

The thrombocytopenia of Wiskott Aldrich syndrome is not related to a defect in proplatelet formation.

Cue set size effects: sampling activated associates or cross-target interference?

Development of fluorine-18-labeled 5-HT1A antagonists.

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy.

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

An nnU-Net-based framework with adaptive feature representation for 3D brain tumor segmentation.

Novel approach to nipple reconstruction: First male FixNip prosthesis implantation.

Microglia-targeted Panax notoginseng polysaccharide nanoparticles alleviate Alzheimer's disease via AMPK-mTOR/HIF-1α-mediated immunometabolic reprogramming.

Artificial Intelligence-Driven Multi-Omics Analysis Reveals Hydroxytyrosol Targeting of the TXNIP-NLRP3 Inflammasome Axis in Traumatic Brain Injury.

Longitudinal NODDI-DTI assessment of brain recovery following CPAP in obstructive sleep apnea: Tissue-compartment changes in white and gray matter.

Brain organoids, high-density MEAs, and deep learning: A new paradigm for functional neurobiomarker discovery.

Related Experiment Videos

A de novo deletion in FMR1 in a patient with developmental delay

Related Concept Videos

Related Articles