Associated Papers
Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family.
He J et al.
Open Life Sciences, 2024
Dysregulation of neuron differentiation in an autistic savant with exceptional memory.
Song J et al.
Molecular Brain, 2019
31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.
Izumi Y et al.
Fertility and Sterility, 2014
Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.
Dateki S et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Select a paper to view details