Associated Papers
Genetic SHBG Deficiency Unmasks the Discrepancy Between Biochemical and Clinical Hypogonadism.
Manz XD et al.
Jcem Case Reports, 2025
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.
Maroofian R et al.
Hgg Advances, 2024
39257002 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).
Friedman D et al.
Npj Genomic Medicine, 2018
29619247 (PubMed )
Supplement: 41525_2018_48_MOESM2_ESM.xlsx › Sheet1
Sex hormone binding globulin deficiency due to a homozygous missense mutation.
Vos MJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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