Huakun Shangguan

机构：Fujian Medical University

发表论文 13 篇 · 总被引 135 次 · h-index 7

代表论文

• Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature (2019 · Orphanet Journal of Rare Diseases · 被引 57)
• Associations of Obesity With Growth and Puberty in Children: A Cross-Sectional Study in Fuzhou, China (2023 · International Journal of Public Health · 被引 15)
• Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up (2020 · Orphanet Journal of Rare Diseases · 被引 15)
• Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review (2022 · Frontiers in Pediatrics · 被引 13)
• Intervention Effect of Probiotics on the Early Onset of Puberty Induced by Daidzein in Female Mice (2022 · Molecular Nutrition & Food Research · 被引 12)
• Knockdown of Kmt2d leads to growth impairment by activating the Akt/β-catenin signaling pathway (2024 · G3 Genes Genomes Genetics · 被引 7)