Ju‐Shan Yu

Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo–auriculo–vertebral spectrum and Treacher–Collins syndrome

Pen‐Hua Su, Ju‐Shan Yu, Jia‐Yuh Chen et al. · Clinical Dysmorphology · 2007 · 23 citations

Medicine, Genetics, Molecular Genetics +16

Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene

Pen‐Hua Su, Jiayu Chen, Suh-Jen Chen et al. · Journal of the Formosan Medical Association · 2006 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

A <i>MID1</i> gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain

Ching‐Hsuan Hu, Yu‐Fan Liu, Ju‐Shan Yu et al. · American Journal of Medical Genetics Part A · 2012 · 17 citations

Life Sciences, Genetics, Molecular Genetics +17

Study of leptin levels and gene polymorphisms in patients with central precocious puberty

Pen‐Hua Su, Shun‐Fa Yang, Ju‐Shan Yu et al. · Pediatric Research · 2012 · 16 citations

Medicine, Endocrinology, Genetics +13

Benign Familial Neonatal Convulsions: Novel Mutation in a Newborn

Inn‐Chi Lee, Jia‐Yuh Chen, Yung-Jung Chen et al. · Pediatric Neurology · 2009 · 13 citations

Medicine, Genetics, Neurology +14