Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue

Chemical cleavage of heteroduplex DNA to identify mutations.

Current protocols in human genetics·2008

Mutation detection 2001: Sixth International Symposium on Mutations in the Human Genome, May 3-7, 2001, Bled, Slovenia.

Human mutation·2001

10th International Hugo mutation database initiative meeting, 19 April 2001, Edinburgh, Scotland.

Human mutation·2001

Go!Poly: A gene-oriented polymorphism database.

Human mutation·2001

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome.

Kidney international·2001

Functional analysis, using in vitro mutagenesis, of amino acids located in the phenylalanine hydroxylase active site.

Archives of biochemistry and biophysics·2001

Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.

Human mutation·2026

Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human MCPH1 Gene: Systematic In Silico Predictions and Implications for Structure and Function.

Human mutation·2026

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Human mutation·2026

Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence Framework.

Human mutation·2026

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.

Human mutation·2026

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung Adenocarcinoma.

Human mutation·2026

Quality Assurance Strategies for Brain State Characterization by MEMRI.

Journal of neuroscience methods·2026

Evaluating the study design and criteria used for status migrainosus research: A systematic review.

Headache·2026

Diagnostic performance of 3T MRI preoperative localization of parathyroid adenomas in primary hyperparathyroidism.

Frontiers in endocrinology·2026

Macroscopic anomaly detection in paddy fields from UAV perspectives: a frequency-aware spatiotemporal mamba approach.

Frontiers in plant science·2026

M3amba: Multi-Modality Mamba for Image Fusion.

IEEE transactions on image processing : a publication of the IEEE Signal Processing Society·2026

Sanzi Sijun Formula Alleviates Lipotoxic Liver Injury in Metabolic Dysfunction-Associated Steatotic Liver Disease via AMPK/SIRT1 Signaling Pathway.

Pharmaceuticals (Basel, Switzerland)·2026

Related Experiment Videos

Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue

Related Concept Videos

Chemical cleavage of heteroduplex DNA to identify mutations.

Mutation detection 2001: Sixth International Symposium on Mutations in the Human Genome, May 3-7, 2001, Bled, Slovenia.

10th International Hugo mutation database initiative meeting, 19 April 2001, Edinburgh, Scotland.

Go!Poly: A gene-oriented polymorphism database.

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome.

Functional analysis, using in vitro mutagenesis, of amino acids located in the phenylalanine hydroxylase active site.

Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.

Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human MCPH1 Gene: Systematic In Silico Predictions and Implications for Structure and Function.

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence Framework.

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung Adenocarcinoma.

Quality Assurance Strategies for Brain State Characterization by MEMRI.

Evaluating the study design and criteria used for status migrainosus research: A systematic review.

Diagnostic performance of 3T MRI preoperative localization of parathyroid adenomas in primary hyperparathyroidism.

Macroscopic anomaly detection in paddy fields from UAV perspectives: a frequency-aware spatiotemporal mamba approach.

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Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue

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