NF1 mutations and clinical spectrum in patients with spinal neurofibromas

Through the orbit and beyond: Current state and future perspectives in endoscopic orbital surgery on behalf of the EANS frontiers committee in orbital tumors and the EANS skull base section.

Brain & spine·2023

Case report: A vertebral bone spur as an etiology for spinal cord herniation: case presentation, surgical technique, and review of the literature.

Frontiers in surgery·2023

Case report: Interdisciplinary treatment of complex C1/C2 fractures in a patient with concomitant three-vessel coronary artery disease requiring bypass surgery.

Frontiers in surgery·2023

Relative size of fungiform papillae in patients with neurofibromatosis Type 1.

Journal of stomatology, oral and maxillofacial surgery·2023

Surgical management of anterior clinoidal meningiomas: consensus statement on behalf of the EANS skull base section.

Acta neurochirurgica·2021

Petroclival meningiomas: update of current treatment and consensus by the EANS skull base section.

Acta neurochirurgica·2021

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Journal of medical genetics·2026

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Journal of medical genetics·2026

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Journal of medical genetics·2026

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal of medical genetics·2026

Astrocytic PDE7B Drives Blood-Brain Barrier Breakdown via Extracellular Vesicles in Demyelinating Disease.

Glia·2026

miRNA-34b overexpression alleviates neuromyelitis optica spectrum disorders by regulating the TIA-1-stress granule pathway.

Pakistan journal of pharmaceutical sciences·2026

Validation and interpretation of the Persian Multiple Sclerosis Neuropsychological Screening Questionnaire.

Journal of clinical and experimental neuropsychology·2026

Disease-Associated Mutations Impact DNA Methyltransferase 1 Function through Dynamic Allosteric Effects and Solvent Exposure.

Journal of chemical theory and computation·2026

Risk of radial nerve injury during deltoid intramuscular injection in shoulder internal rotation and abduction position-cadaveric anatomical study.

Human vaccines & immunotherapeutics·2026

BetaII-spectrin gaps and patches emerge from the patterned assembly of the actin/spectrin membrane skeleton in human motor neuron axons.

eLife·2026

Related Experiment Videos

NF1 mutations and clinical spectrum in patients with spinal neurofibromas

Related Concept Videos

Through the orbit and beyond: Current state and future perspectives in endoscopic orbital surgery on behalf of the EANS frontiers committee in orbital tumors and the EANS skull base section.

Case report: A vertebral bone spur as an etiology for spinal cord herniation: case presentation, surgical technique, and review of the literature.

Case report: Interdisciplinary treatment of complex C1/C2 fractures in a patient with concomitant three-vessel coronary artery disease requiring bypass surgery.

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Surgical management of anterior clinoidal meningiomas: consensus statement on behalf of the EANS skull base section.

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Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

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Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Astrocytic PDE7B Drives Blood-Brain Barrier Breakdown via Extracellular Vesicles in Demyelinating Disease.

miRNA-34b overexpression alleviates neuromyelitis optica spectrum disorders by regulating the TIA-1-stress granule pathway.

Validation and interpretation of the Persian Multiple Sclerosis Neuropsychological Screening Questionnaire.

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NF1 mutations and clinical spectrum in patients with spinal neurofibromas

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