Mammalian release factor; in vitro assay and purification

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

Clinical genetics·2017

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.

Journal of autism and developmental disorders·2016

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

American journal of medical genetics. Part A·2010

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

Journal of medical genetics·2009

Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.

Journal of medical genetics·2005

Autism in Angelman syndrome: implications for autism research.

Clinical genetics·2004

Clinical Europium fluorescent based lectin assays for mucin O-glycomics.

Methods in enzymology·2026

A dual-color FRET assay for detection and quantitative analysis of O-glycopeptidases.

Methods in enzymology·2026

Evolutionary genetic approaches to analyze mucins.

Methods in enzymology·2026

Ex vivo imaging and enzymatic analysis of intestinal mucus.

Methods in enzymology·2026

Glyco-TRAPP: A real-time glycocalyx permeability assay for assessing transmembrane mucin barrier function in live and fixed tissues.

Methods in enzymology·2026

Quantitative imaging approaches to capture structural and functional dynamics of colonic mucus in health and disease in situ.

Methods in enzymology·2026

Finite element analysis of pin configurations used for paediatric supracondylar humeral fractures in an adult humerus model: evaluation of a condylo-trochlear sulcus technique.

International orthopaedics·2026

A BOHB-optimized stacking ensemble approach for predicting the coefficient of compressibility and quantifying uncertainty of guilin lateritic clays.

iScience·2026

Integrating statistical parametric mapping, functional principal component analysis, explainable machine learning, and equivalence testing for multimodal gait signal analysis.

BMC biomedical engineering·2026

Absorbable Versus Non-Absorbable Suture Materials in Transtibial Pull-Out Repair of Medial Meniscus Posterior Root Tears: A Systematic Review and Meta-Analysis.

Orthopaedics & traumatology, surgery & research : OTSR·2026

Optimizing Tension in First Carpometacarpal Prosthesis Using Tenodesis Effect.

Hand surgery & rehabilitation·2026

Toward self-contained cardiac magnetic resonance elastography: Deep learning-based segmentation of the left ventricular myocardium.

Magnetic resonance imaging·2026

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Mammalian release factor; in vitro assay and purification

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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.

Autism in Angelman syndrome: implications for autism research.

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