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23 results on '"Bak, Mads"'

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1. TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma

2. DNA methylation episignature in Gabriele-de Vries syndrome

3. Case report: ‘AARS2 leukodystrophy’

6. Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

9. Re-Examination of Danish Carriers of Balanced Chromosomal Inversions

11. Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

15. Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

17. A Functional Link between the Histone Demethylase PHF8 and the Transcription Factor ZNF711 in X-Linked Mental Retardation

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