Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM2_ESM.pdf
Craniofacial Phenotypes and Genetics of DiGeorge Syndrome.
Funato N
Journal of Developmental Biology, 2022
A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness.
Alghamdi M et al.
Journal of the Endocrine Society, 2020
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