Pyridinium cross-links in heritable disorders of collagen

Characterization and regulation of insulin binding by embryonic chick heart cells.

Developmental biology·2010

Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors.

Chemico-biological interactions·2010

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

Journal of medical genetics·2005

Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

Human mutation·2003

GALT deficiency causes UDP-hexose deficit in human galactosemic cells.

Glycobiology·2003

Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome.

Journal of inherited metabolic disease·2002

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

American journal of human genetics·2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

American journal of human genetics·2026

Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.

American journal of human genetics·2026

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness.

American journal of human genetics·2026

A phenotypic paradigm for cerebral palsy genetics.

American journal of human genetics·2026

Phospholipid-regulated myosin interfacial adsorption orderliness as a key determinant of gel network order and water holding capacity in emulsified meat systems.

Meat science·2026

Modular Polymers With Tuneable Charge and Amphiphilicity for Effective Antimicrobial Photodynamic Therapy.

Macromolecular rapid communications·2026

Elucidation of Macrocycle-Derived Covalent Organic Framework Film Formation through Interfacial Linker Exchange.

ACS applied materials & interfaces·2026

Correction: Validity of kinetic predictions for polymer crystallization from molten and glassy states: the case of poly(p-dioxanone).

Physical chemistry chemical physics : PCCP·2026

Coarse-Graining Reshapes Knot Dynamics in Polymers and Proteins.

The journal of physical chemistry. B·2026

Effect of the Main/Side Chain Ratio on Mechanical Properties of Palm-Oil-Based H-Bond-Toughened Bottle-Brush Polymers Studied by MD Simulation.

The journal of physical chemistry. B·2026

Related Experiment Videos

Pyridinium cross-links in heritable disorders of collagen

Related Concept Videos

Characterization and regulation of insulin binding by embryonic chick heart cells.

Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors.

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

GALT deficiency causes UDP-hexose deficit in human galactosemic cells.

Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome.

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness.

A phenotypic paradigm for cerebral palsy genetics.

Phospholipid-regulated myosin interfacial adsorption orderliness as a key determinant of gel network order and water holding capacity in emulsified meat systems.

Modular Polymers With Tuneable Charge and Amphiphilicity for Effective Antimicrobial Photodynamic Therapy.

Elucidation of Macrocycle-Derived Covalent Organic Framework Film Formation through Interfacial Linker Exchange.

Correction: Validity of kinetic predictions for polymer crystallization from molten and glassy states: the case of poly(p-dioxanone).

Coarse-Graining Reshapes Knot Dynamics in Polymers and Proteins.

Effect of the Main/Side Chain Ratio on Mechanical Properties of Palm-Oil-Based H-Bond-Toughened Bottle-Brush Polymers Studied by MD Simulation.

Related Experiment Videos

Pyridinium cross-links in heritable disorders of collagen

Related Concept Videos

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