Background/Aims: In addition to genome-wide association studies (GWAS), height-associated genes may be uncovered by studying individuals with extreme short or tall stature. Methods: Genome-wide analys

Figshare2017-06-20 更新40

Additional file 5: of Targeted next-generation sequencing identification of mutations in patients with disorders of sex development

发育障碍遗传学

性染色体剂量分析

Sex chromosome dosage analysis. (XLSX 14.1 kb)

Figshare2016-03-15 更新30

XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris)

发育障碍遗传学

生物疾病模型

Remarkable progress has been achieved in understanding the mechanisms controlling sex determination, yet the cause for many Disorders of Sex Development (DSD) remains unknown. Of particular interest i

Figshare2017-10-21 更新50

Supplementary Material for: DHX37 and the implications in Disorders of Sex Development: an update review

发育障碍遗传学

睾丸发育

Background: DHX37 is an autosomal gene responsible for encoding a helicase from the DExD/H-box family that plays an essential role in ribosome biogenesis. Variants in this gene were previously reporte

Figshare2023-12-23 更新30

ena-DATASET-SC-25-06-2015-08:18:42:607-3 - samples

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