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GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity
UploadEpisignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome
Download from doi.orgBroadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature
UploadDiagnosis and Management of Central Congenital Hypothyroidism
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