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Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation.

Epilepsy & behavior reports·2023

Protocadherin 19 mutations in girls with infantile-onset epilepsy.

Neurology·2010

Abnormal corticomuscular and intermuscular coupling in high-frequency rhythmic myoclonus.

Brain : a journal of neurology·2003

Autosomal recessive polymicrogyria with infantile spasms and limb deformities.

Neuropediatrics·2002

Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2.

Brain : a journal of neurology·2001

Aloe-Emodin quinone pretreatment reduces acute liver injury induced by carbon tetrachloride.

Pharmacology & toxicology·2000

Interstitial Lung Disease in a Dental Technician Diagnosed Through an Integrated Multidisciplinary Approach.

La Medicina del lavoro·2026

Sleep Quality and Physiological Stress in Emergency Physicians During 24‑Hour Shifts: A Wearable‑Based Occupational Health Assessment.

La Medicina del lavoro·2026

The Impact of Robotization on Employees' Mental and Physical Health: A Qualitative Study in the Czech and Slovak Republics.

La Medicina del lavoro·2026

Women's Work and its Effects on Personal Wellbeing and Satisfaction with Life: A Cross-Sectional Comparative Study.

La Medicina del lavoro·2026

A Portable Heat-Exchange-Based System for Assessing Digital Vascular Response to Cold.

La Medicina del lavoro·2026

Combined Occupational Exposure to Lead and Other Metals and Risk of Lung Cancer.

La Medicina del lavoro·2026

Incidence, Risk Factors, and Economic Impact of Bleeding After Renal Biopsy: A Prospective Cohort Study.

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia·2026

Shining a light on brain tumors: a review of Raman spectroscopy in the operating room.

Journal of biomedical optics·2026

PENFAST-A: A Modified Clinical Decision Rule for ß-Lactam Allergy Risk Stratification in a Tertiary Allergy Center.

International archives of allergy and immunology·2026

Multifunctional cardiac tropin I sensing using MWCNTs-COOH/PoPD composites for integrated warning, screening and protection assessment of traditional Chinese medicine-induced cardiotoxicity.

Mikrochimica acta·2026

Endolysosomal routing combined with immune stimulation enhances anti-tumor efficacy of an HPV16 mRNA therapeutic vaccine.

Materials today. Bio·2026

Rett syndrome in the therapeutic era: Rethinking diagnosis, boundaries, clinical outcomes, and financing.

Developmental medicine and child neurology·2026

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[Medical control of workers exposed to benzol]

Related Concept Videos

Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation.

Protocadherin 19 mutations in girls with infantile-onset epilepsy.

Abnormal corticomuscular and intermuscular coupling in high-frequency rhythmic myoclonus.

Autosomal recessive polymicrogyria with infantile spasms and limb deformities.

Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2.

Aloe-Emodin quinone pretreatment reduces acute liver injury induced by carbon tetrachloride.

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Shining a light on brain tumors: a review of Raman spectroscopy in the operating room.

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Multifunctional cardiac tropin I sensing using MWCNTs-COOH/PoPD composites for integrated warning, screening and protection assessment of traditional Chinese medicine-induced cardiotoxicity.

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