Etiqueta: #EurJHumGen
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A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort
European Journal of Human Genetics, Published online: 27 December 2025; doi:10.1038/s41431-025-01990-yA systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort
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Exome sequencing points to pathogenic <i>ATM</i> variants in gastric cancer
European Journal of Human Genetics, Published online: 26 December 2025; doi:10.1038/s41431-025-01994-8Exome sequencing points to pathogenic ATM variants in gastric cancer
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A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy
European Journal of Human Genetics, Published online: 24 December 2025; doi:10.1038/s41431-025-01991-xA homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy
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Hereditary diffuse gastric cancer in progress: Comparative lessons from Lynch syndrome
European Journal of Human Genetics, Published online: 22 December 2025; doi:10.1038/s41431-025-01992-wHereditary diffuse gastric cancer in progress: Comparative lessons from Lynch syndrome
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Robert James McKinlay (“Mac”) Gardner
European Journal of Human Genetics, Published online: 20 December 2025; doi:10.1038/s41431-025-01989-5Robert James McKinlay (“Mac”) Gardner
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Young people’s experience of predictive genetic testing for inherited cardiac conditions: a qualitative study
European Journal of Human Genetics, Published online: 14 December 2025; doi:10.1038/s41431-025-01988-6Young people’s experience of predictive genetic testing for inherited cardiac conditions: a qualitative study
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Cascade counselling and testing. Recommendations of the European Society of Human Genetics
European Journal of Human Genetics, Published online: 14 December 2025; doi:10.1038/s41431-025-01945-3Cascade counselling and testing. Recommendations of the European Society of Human Genetics
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“The ability to get ahead”: Australian parent perspectives on genomics in newborn screening and considerations for potential models of care
European Journal of Human Genetics, Published online: 09 December 2025; doi:10.1038/s41431-025-01971-1“The ability to get ahead”: Australian parent perspectives on genomics in newborn screening and considerations for potential models o…
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Genomic pathway managers: a novel role in the genomic medicine care pathway in France—overview and perspectives
European Journal of Human Genetics, Published online: 09 December 2025; doi:10.1038/s41431-025-01980-0Genomic pathway managers: a novel role in the genomic medicine care pathway in France—overview and perspectives
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Reconsidering a silent variant: <i>SGCA</i>’s role in atypical cardiomyopathy
European Journal of Human Genetics, Published online: 04 December 2025; doi:10.1038/s41431-025-01981-zReconsidering a silent variant: SGCA’s role in atypical cardiomyopathy