Associated Papers
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS15
(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.
Fontana L et al.
Molecular Genetics & Genomic Medicine, 2020
32627967 (PubMed )
Supplement: MGG3-8-e1386-s001.xlsx › 18N-015_recessive
Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.
Hebert E et al.
Genes, 2017
29057844 (PubMed )
Supplement: genes-08-00276-s001.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1635.580
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