Associated Papers
Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.
Wang T et al.
Heliyon, 2024
38148819 (PubMed )
Supplement: mmc1.docx
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
38440187 (PubMed )
Supplement: Table3.xlsx › Sheet1
Inherited causes of combined vision and hearing loss: clinical features and molecular genetics.
Guimaraes TAC et al.
The British Journal of Ophthalmology, 2023
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