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「Hum Mutat[Journal]」の検索結果

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Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements.

Functional consequences of SLC1A3 mutations associated with episodic ataxia 6.

Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypes.

A commentary on "A Vietnamese human genetic variation database".

Response to: A commentary on "A Vietnamese human genetic variation database".

Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines.

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.

De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome.

Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.

Clinical and Laboratory Interpretation of Mitochondrial mRNA Variants.

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).

Human genes differ by their UV sensitivity estimated through analysis of UV-induced silent mutations in melanoma.

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.

Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria.

Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.

EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases.

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.

General population ZBTB18 missense variants influence DNA binding and transcriptional regulation.

Mandibular-Pelvic-Patellar syndrome (MPP) is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.

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