Humans

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features';

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

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Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice';

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice

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A mutation in Nischarin causes otitis media via LIMK1 and NF-kappaB pathways';

A mutation in Nischarin causes otitis media via LIMK1 and NF-kappaB pathways

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Dual-action combination therapy enhances angiogenesis while reducing tumor growth and spread';

Dual-action combination therapy enhances angiogenesis while reducing tumor growth and spread

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GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’';

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

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Recommendations for minimum information for publication of experimental pathology data: MINPEPA guidelines';

Recommendations for minimum information for publication of experimental pathology data: MINPEPA guidelines

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