Juvenile GM 1 gangliosidosis: clinical, pathological, chemical and enzymatic studies

Measurement of Charged-Particle Production in sqrt[s_{NN}]=9.62 TeV Proton-Oxygen Collisions as a Probe of Cosmic-Ray Air Showers with the ATLAS Detector.

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Measurements of Z-Boson Pair Entanglement in Decays of Higgs Bosons at the ATLAS Experiment.

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Evidence of ZZγ Production with the ATLAS Detector.

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Evidence of Higgs Boson Inclusive Production at High Transverse Momentum Decaying to a Pair of b-Quarks with the ATLAS Detector.

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Combination of Measurements of CP Properties of Higgs Boson Interactions with Vector Bosons Using Proton-Proton Collisions at sqrt[s]=13 TeV with the ATLAS Detector.

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Evidence for the Collective Nature of Radial Flow in Pb+Pb Collisions with the ATLAS Detector.

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A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

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A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult-Onset Primary Lateral Sclerosis-Like Syndrome.

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A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans.

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Müllerian Duct Aplasia in a Girl With SMARCB1-Related Coffin-Siris Syndrome: A Rare Co-Occurring Anomaly.

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Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.

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Liquid Biopsy and Multi-Cancer Early Detection Tests for Cancer Screening: A Scoping Review.

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Caregiver's perspectives toward genome sequencing in children with neurodevelopmental disorders: Integrating genomic information into pediatric care.

Current problems in pediatric and adolescent health care·2026

Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene: a case report.

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Pediatric Spinal Cord Astrocytoma With Granular Cell-Like Morphology and KIAA1549::BRAF Fusion.

Neuropathology : official journal of the Japanese Society of Neuropathology·2026

KCTD1 p.Gly62Asp Variant in Scalp-Ear-Nipple Syndrome: Phenotypic and Structural Insights.

The Journal of craniofacial surgery·2026

Selective vulnerability and resilience of thalamic neuronal populations in Frontotemporal Dementia.

Research square·2026

Schizophrenia-associated polygenic liability and structural genomic risk demonstrate broadly distributed neuropsychiatric associations in the All of Us Research Program.

medRxiv : the preprint server for health sciences·2026

Related Experiment Videos

Juvenile GM 1 gangliosidosis: clinical, pathological, chemical and enzymatic studies

Related Concept Videos

Measurement of Charged-Particle Production in sqrt[s_{NN}]=9.62 TeV Proton-Oxygen Collisions as a Probe of Cosmic-Ray Air Showers with the ATLAS Detector.

Measurements of Z-Boson Pair Entanglement in Decays of Higgs Bosons at the ATLAS Experiment.

Evidence of ZZγ Production with the ATLAS Detector.

Evidence of Higgs Boson Inclusive Production at High Transverse Momentum Decaying to a Pair of b-Quarks with the ATLAS Detector.

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A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult-Onset Primary Lateral Sclerosis-Like Syndrome.

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KCTD1 p.Gly62Asp Variant in Scalp-Ear-Nipple Syndrome: Phenotypic and Structural Insights.

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Juvenile GM 1 gangliosidosis: clinical, pathological, chemical and enzymatic studies

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