Associated Papers
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
Cubellis MV et al.
Clinical Epigenetics, 2020
32928291 (PubMed )
Supplement: 13148_2020_925_MOESM6_ESM.xlsx › F2_I-4
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3
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