The genetic defect in the de Sanctis-Cacchione syndrome

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

European journal of human genetics : EJHG·2013

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

Human mutation·2006

Regulation of the cell swelling-activated chloride conductance by cholesterol-rich membrane domains.

Acta physiologica (Oxford, England)·2006

Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy.

Neurology·2006

Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.

Neuropediatrics·2005

Integrative cortical dysfunction and pervasive motion perception deficit in fragile X syndrome.

Neurology·2004

Chimeric antigen receptor T-cell therapy in dermatologic autoimmunity: Mechanisms, applications, and future directions.

The Journal of investigative dermatology·2026

Part I. Quantitative provocation and assessment of cutaneous pain in experimental systems: Methods, techniques, and applications.

The Journal of investigative dermatology·2026

Part II. Measuring skin pain in humans: Quantitative, psychophysical, and patient-reported tools for dermatology.

The Journal of investigative dermatology·2026

Circadian skin pH gates IL-33 and remote food sensitization.

The Journal of investigative dermatology·2026

Inhibition of Salt-Inducible Kinases 2 and 3 reduces inflammatory signature in Psoriasis.

The Journal of investigative dermatology·2026

Regulatory T cells: From Foxp3 to tolerance-inducing therapies.

The Journal of investigative dermatology·2026

Evaluation of Pharmacist-Driven Inhaled Corticosteroid De-escalation in Veterans.

Federal practitioner : for the health care professionals of the VA, DoD, and PHS·2026

Elevated CO2 increases C allocation to CaCO3 mineralization relative to net organic C fixation in Ceratostigma willmottianum.

The New phytologist·2026

The effect of the cooling process of ferrochrome slag waste on its performance as a sustainable supplementary cementitious material.

Environmental science and pollution research international·2026

Carbon footprint of anaesthesia pharmaceuticals and disposable products during Caesarean delivery: a single-centre prospective observational study.

British journal of anaesthesia·2026

Supramolecular Cucurbit[7]uril-Engineered Co/Ca Bimetallic Nitrogen-Doped Carbon: Structural Regulation for Sustainable Advanced Oxidation.

Environmental research·2026

Preparation of K2CO3-activated biochar from peanut shell and Chlorella for enhanced carbamazepine adsorption: Performance, mechanism, and reusability.

Journal of environmental management·2026

Related Experiment Videos

The genetic defect in the de Sanctis-Cacchione syndrome

Related Concept Videos

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

Regulation of the cell swelling-activated chloride conductance by cholesterol-rich membrane domains.

Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy.

Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.

Integrative cortical dysfunction and pervasive motion perception deficit in fragile X syndrome.

Chimeric antigen receptor T-cell therapy in dermatologic autoimmunity: Mechanisms, applications, and future directions.

Part I. Quantitative provocation and assessment of cutaneous pain in experimental systems: Methods, techniques, and applications.

Part II. Measuring skin pain in humans: Quantitative, psychophysical, and patient-reported tools for dermatology.

Circadian skin pH gates IL-33 and remote food sensitization.

Inhibition of Salt-Inducible Kinases 2 and 3 reduces inflammatory signature in Psoriasis.

Regulatory T cells: From Foxp3 to tolerance-inducing therapies.

Evaluation of Pharmacist-Driven Inhaled Corticosteroid De-escalation in Veterans.

Elevated CO2 increases C allocation to CaCO3 mineralization relative to net organic C fixation in Ceratostigma willmottianum.

The effect of the cooling process of ferrochrome slag waste on its performance as a sustainable supplementary cementitious material.

Carbon footprint of anaesthesia pharmaceuticals and disposable products during Caesarean delivery: a single-centre prospective observational study.

Supramolecular Cucurbit[7]uril-Engineered Co/Ca Bimetallic Nitrogen-Doped Carbon: Structural Regulation for Sustainable Advanced Oxidation.

Preparation of K2CO3-activated biochar from peanut shell and Chlorella for enhanced carbamazepine adsorption: Performance, mechanism, and reusability.

Related Experiment Videos

The genetic defect in the de Sanctis-Cacchione syndrome

Related Concept Videos

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