Sotos syndrome and fragile X chromosomes

[Pediatric cutaneous mastocytosis].

Revue medicale de Liege·2020

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

Wildfire smoke and health: current evidence, mechanisms, and future challenges.

Lancet (London, England)·2026

Use of the bacterial lysate OM-85 for the primary prevention of wheezing lower respiratory illness in preschool children: a randomised, placebo-controlled trial.

Lancet (London, England)·2026

Wealth redistribution policies to mitigate the impact of development assistance defunding: a retrospective evaluation and forecasting analysis up to 2030.

Lancet (London, England)·2026

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

Lancet (London, England)·2026

The changing therapeutic landscape of small-cell lung cancer.

Lancet (London, England)·2026

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

Lancet (London, England)·2026

Purification of a Au tracer from a Pt target using UTEVA resin column chromatography.

Journal of chromatography. A·2026

Future Model for Efficient and Advanced Space Transportation: Exploration and Perspectives.

Research (Washington, D.C.)·2026

Effects of lunar gravity on the muscles, bones, and joint capsules of the upper limbs of mice.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association·2026

Environments "develop": Infant motor development can inform the study of physical space.

New ideas in psychology·2026

ibSLS as a biobank for democratizing access to multi-omics data and biospecimens from spaceflight research.

Nature communications·2026

Advanced biomaterials for human health in space.

Nanoscale·2026

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Sotos syndrome and fragile X chromosomes

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[Pediatric cutaneous mastocytosis].

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.

Wildfire smoke and health: current evidence, mechanisms, and future challenges.

Use of the bacterial lysate OM-85 for the primary prevention of wheezing lower respiratory illness in preschool children: a randomised, placebo-controlled trial.

Wealth redistribution policies to mitigate the impact of development assistance defunding: a retrospective evaluation and forecasting analysis up to 2030.

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

The changing therapeutic landscape of small-cell lung cancer.

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

Purification of a Au tracer from a Pt target using UTEVA resin column chromatography.

Future Model for Efficient and Advanced Space Transportation: Exploration and Perspectives.

Effects of lunar gravity on the muscles, bones, and joint capsules of the upper limbs of mice.

Environments "develop": Infant motor development can inform the study of physical space.

ibSLS as a biobank for democratizing access to multi-omics data and biospecimens from spaceflight research.

Advanced biomaterials for human health in space.

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Sotos syndrome and fragile X chromosomes

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