Another double trouble. Silent carriers of doublecortin mutations

Individualized antisense oligonucleotides for SCN2A-related developmental epileptic encephalopathy.

Nature medicine·2026

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

medRxiv : the preprint server for health sciences·2026

Addressing the needs of nano-rare patients: the n-Lorem experience.

Nucleic acids research·2026

Disease insights from brain somatic mosaicism.

Experimental & molecular medicine·2026

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Nature·2026

When loss is gain: truncating mutations in additional sex combs (ASXL) gene family in cancer and neurodevelopment.

Trends in genetics : TIG·2026

Refining Treatment Monitoring in Patients With Relapsing Multiple Sclerosis Based on Changes on Neurofilament Light Chain Z-Scores.

Neurology·2026

Effect of a ≥50% Reduction in Low-Density Lipoprotein Cholesterol From Baseline in Patients With Ischemic Stroke.

Neurology·2026

The Prognostic Value of Paramagnetic Rim Lesions in People With Multiple Sclerosis.

Neurology·2026

Effect of Baseline ASPECTS on Tenecteplase Efficacy Before Thrombectomy in Acute Large-Vessel Occlusion Stroke: A Post Hoc Analysis of the BRIDGE-TNK Randomized Trial.

Neurology·2026

Paternal Valproate Exposure and Offspring Neurodevelopmental Outcomes.

Neurology·2026

Application of the 2024 McDonald Criteria: Earlier Diagnosis and Avoiding Misdiagnosis of Multiple Sclerosis in a Global Setting.

Neurology·2026

Density-Corrected Density Functional Theory for Solids.

Physical review letters·2026

Closed-form connection-number-based topological indices for porphyrazine and tetrakis-porphyrazine networks.

Journal of molecular graphics & modelling·2026

A comparative study on the isomerization pathways of heteroatom (S, O)-bridged 9-membered and 8-membered cyclic azobenzene photoswitches.

The Journal of chemical physics·2026

Quantum Mechanical Studies of Photodissociation Dynamics on Quantum Computers.

The journal of physical chemistry letters·2026

Advancing practical quantum embedding simulations via operator commutativity-based state preparation for complex chemical systems.

Chemical science·2026

Demystifying density functional theory for the crystal engineering community.

Acta crystallographica. Section C, Structural chemistry·2026

Related Experiment Videos

Another double trouble. Silent carriers of doublecortin mutations

Related Concept Videos

Individualized antisense oligonucleotides for SCN2A-related developmental epileptic encephalopathy.

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Addressing the needs of nano-rare patients: the n-Lorem experience.

Disease insights from brain somatic mosaicism.

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

When loss is gain: truncating mutations in additional sex combs (ASXL) gene family in cancer and neurodevelopment.

Refining Treatment Monitoring in Patients With Relapsing Multiple Sclerosis Based on Changes on Neurofilament Light Chain Z-Scores.

Effect of a ≥50% Reduction in Low-Density Lipoprotein Cholesterol From Baseline in Patients With Ischemic Stroke.

The Prognostic Value of Paramagnetic Rim Lesions in People With Multiple Sclerosis.

Effect of Baseline ASPECTS on Tenecteplase Efficacy Before Thrombectomy in Acute Large-Vessel Occlusion Stroke: A Post Hoc Analysis of the BRIDGE-TNK Randomized Trial.

Paternal Valproate Exposure and Offspring Neurodevelopmental Outcomes.

Application of the 2024 McDonald Criteria: Earlier Diagnosis and Avoiding Misdiagnosis of Multiple Sclerosis in a Global Setting.

Density-Corrected Density Functional Theory for Solids.

Closed-form connection-number-based topological indices for porphyrazine and tetrakis-porphyrazine networks.

A comparative study on the isomerization pathways of heteroatom (S, O)-bridged 9-membered and 8-membered cyclic azobenzene photoswitches.

Quantum Mechanical Studies of Photodissociation Dynamics on Quantum Computers.

Advancing practical quantum embedding simulations via operator commutativity-based state preparation for complex chemical systems.

Demystifying density functional theory for the crystal engineering community.

Related Experiment Videos

Another double trouble. Silent carriers of doublecortin mutations

Related Concept Videos

Related Articles