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European Journal of Human Genetics - ResearchHub

Journal

European Journal of Human Genetics

1018-4813 · Springer Science and Business Media LLC

12 verified public works

Browse all journals →

Gene-specific reclassification patterns of variants in hypertrophic cardiomyopathy

2026 · 0 citations

Health inequalities in precision medicine: A systematic review

2026 · 0 citations

Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012–2022)

2026 · 0 citations

Healthcare professionals’ views on expanding newborn screening with or without genomics in France: Results of the SeDeN-p2 study

2026 · 0 citations

Patient harms during delayed access to clinical genetics services. A systematic literature review and synthesis without meta-analysis (SWiM)

2026 · 0 citations

Characterising the ‘Genomics Friend’: Experiences of learning genomics in the workplace to inform implementation efforts

2026 · 0 citations

Genomics cycle: discover, diagnose, interpret, act

2026 · 0 citations

Insertion or deletion variants in TAF15 exon 15 are genetic factors impacting the prognosis of amyotrophic lateral sclerosis in a Japanese cohort

2026 · 0 citations

Expanded carrier screening in China: a focused narrative review and conceptual implementation framework

2026 · 0 citations

Manufactured gametes and the principle of genetic caution

2026 · 0 citations

Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening

2026 · 0 citations

Penetrance, effect and causal attribution: which number should be reported for recurrent copy-number variants?

2026 · 0 citations

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