Associated Papers
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Butcher DT et al.
American Journal of Human Genetics, 2017
28475860 (PubMed )
Supplement: mmc1.pdf
CHARGE syndrome: A case report of two new CDH7 gene mutations.
Galvez-Ruiz A et al.
Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society, 0
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