[The fragile X syndrome in 1987. Recent findings and review of the problem]

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

The British journal of dermatology·2018

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

The British journal of dermatology·2018

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.

Clinical genetics·2018

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Neurogenetics·2018

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.

Clinical genetics·2018

INTU-related oral-facial-digital syndrome type VI: A confirmatory report.

Clinical genetics·2018

[Calcitonin measurement in fine needle aspiration washout fluid : when biology arbitrates between two cytological diagnoses].

Revue medicale de Liege·2026

[Neonatal screening for sickle cell disease in South Kivu, eastern Democratic Republic of Congo : a hospital-based cross-sectional study].

Revue medicale de Liege·2026

[Evolocumab (Repatha®) : new evidence across the continuum of atherosclerotic cardiovascular disease].

Revue medicale de Liege·2026

[Pulmonary hypertension associated with interstitial lung diseases: current state of the art].

Revue medicale de Liege·2026

[Sudden cardiac death and hypertrophic cardiomyopathy : risk assessment and indications for implantable cardioverter-defibrillator].

Revue medicale de Liege·2026

[The role of therapeutic education in the care of tuberculosis patients].

Revue medicale de Liege·2026

Dust Contamination and Environmental Cofactor Effects on Flexible Sensors and Antennas: A Review.

Sensors (Basel, Switzerland)·2026

Aircraft and Airport Wastewater Surveillance for Public Health Preparedness Demands an Integrated and Sustainable Approach.

Viruses·2026

Weighted Analysis of Corrosion-Inducing Impurities in Supercritical CO2 Transportation System.

Molecules (Basel, Switzerland)·2026

Recent Advances in Near-Infrared Fluorescent Probes Based on Organic Small Molecules for the Detection and Imaging of Heavy Metal Ions.

Molecules (Basel, Switzerland)·2026

Elevated Outdoor O3 Can Sustain New Particle Formation and Growth Indoors.

Environmental science & technology·2026

New Perspectives on Air Pollution and Cardiac Health: from Real-Time Patient and Exposure Monitoring to Precision Cardiac Organoids.

Yonsei medical journal·2026

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[The fragile X syndrome in 1987. Recent findings and review of the problem]

Related Concept Videos

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.

INTU-related oral-facial-digital syndrome type VI: A confirmatory report.

[Calcitonin measurement in fine needle aspiration washout fluid : when biology arbitrates between two cytological diagnoses].

[Neonatal screening for sickle cell disease in South Kivu, eastern Democratic Republic of Congo : a hospital-based cross-sectional study].

[Evolocumab (Repatha®) : new evidence across the continuum of atherosclerotic cardiovascular disease].

[Pulmonary hypertension associated with interstitial lung diseases: current state of the art].

[Sudden cardiac death and hypertrophic cardiomyopathy : risk assessment and indications for implantable cardioverter-defibrillator].

[The role of therapeutic education in the care of tuberculosis patients].

Dust Contamination and Environmental Cofactor Effects on Flexible Sensors and Antennas: A Review.

Aircraft and Airport Wastewater Surveillance for Public Health Preparedness Demands an Integrated and Sustainable Approach.

Weighted Analysis of Corrosion-Inducing Impurities in Supercritical CO2 Transportation System.

Recent Advances in Near-Infrared Fluorescent Probes Based on Organic Small Molecules for the Detection and Imaging of Heavy Metal Ions.

Elevated Outdoor O3 Can Sustain New Particle Formation and Growth Indoors.

New Perspectives on Air Pollution and Cardiac Health: from Real-Time Patient and Exposure Monitoring to Precision Cardiac Organoids.

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[The fragile X syndrome in 1987. Recent findings and review of the problem]

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