Novel initiation codon mutation Met1Thr identified in a patient with partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

Pathogen inactivation/reduction of platelet concentrates: turning theory into practice.

ISBT science series·2020

Management of large peripheral nerve defects with autografting.

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Differential interaction between DARC and SDF-1 on erythrocytes and their precursors.

Scientific reports·2019

Study on the protective effect of the KIR3DL1 gene in ankylosing spondylitis.

Arthritis & rheumatology (Hoboken, N.J.)·2015

Nonallelic homologous recombination of the FCGR2/3 locus results in copy number variation and novel chimeric FCGR2 genes with aberrant functional expression.

Genes and immunity·2015

Novel insights in the genomic organization and hotspots of recombination in the human KIR locus through analysis of intergenic regions.

Genes and immunity·2014

A Regulator SNP Affecting the Transcription Factor SP1 Binding Site in the PIK3R3 Gene Contributes to Noise-Induced Hearing Loss Risk.

Human mutation·2026

Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.

Human mutation·2026

Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations.

Human mutation·2026

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Human mutation·2026

Genotype-Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants-New Cases and Systematic Review.

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A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental Disorders.

Human mutation·2026

Brain photobiomodulation therapy for acute sport-related concussion: a randomized, single-blinded, pilot clinical trial (RECOVERY study).

Frontiers in neurology·2026

Correction: Revisiting metformin as a chemotherapy adjuvant: a systematic review and meta-analysis based on recent randomized-controlled trials.

Frontiers in oncology·2026

Reln Haploinsufficiency Enhances Fentanyl-Induced Locomotion and Dorsal Striatal Activity Without Affecting Opioid Reinforcement and Relapse-Like Behavior.

Genes, brain, and behavior·2026

Inducible human yolk sac myeloid progenitors model myeloid ontogeny and enable tissue-resident macrophage replacement in vivo.

Developmental cell·2026

Nebulized inhalation of exosomes from human umbilical cord mesenchymal stem cells alleviates bleomycin-induced pulmonary fibrosis through tsRNA cargos.

Tissue & cell·2026

Methotrexate Modulates Polymorphonuclear Neutrophil Function Through Reduced Chemotaxis and Increased LOX-1 Expression.

Immunity, inflammation and disease·2026

Related Experiment Videos

Novel initiation codon mutation Met1Thr identified in a patient with partial hypoxanthine-guanine

Related Concept Videos

Pathogen inactivation/reduction of platelet concentrates: turning theory into practice.

Management of large peripheral nerve defects with autografting.

Differential interaction between DARC and SDF-1 on erythrocytes and their precursors.

Study on the protective effect of the KIR3DL1 gene in ankylosing spondylitis.

Nonallelic homologous recombination of the FCGR2/3 locus results in copy number variation and novel chimeric FCGR2 genes with aberrant functional expression.

Novel insights in the genomic organization and hotspots of recombination in the human KIR locus through analysis of intergenic regions.

A Regulator SNP Affecting the Transcription Factor SP1 Binding Site in the PIK3R3 Gene Contributes to Noise-Induced Hearing Loss Risk.

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Related Experiment Videos

Novel initiation codon mutation Met1Thr identified in a patient with partial hypoxanthine-guanine...

Related Concept Videos

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Novel initiation codon mutation Met1Thr identified in a patient with partial hypoxanthine-guanine