Lv2
198 积分 2024-12-27 加入
Novel human pathological mutations. Gene symbol: HESX1. Disease: septo-optic dysplasia
22小时前
求助中
A Rare Case of Synchronous Fumarate Hydratase-Deficient Renal Cell Carcinoma and Clear Cell Renal Cell Carcinoma With Fumarate Hydratase and von Hippel-Lindau Gene Mutations: A Clinicopathologic and Molecular Study
19天前
已完结
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
2个月前
已完结
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
2个月前
已完结
Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 ‐ implications for retinal screening in HSN1
3个月前
已完结
Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes
4个月前
已关闭
Сравнительный анализ активности полиморфных вариантов урацил-ДНК-гликозилаз человека SMUG1 и MBD4
4个月前
已关闭
Genetic investigation of syndromic forms of obesity
5个月前
已完结
Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family
5个月前
已完结
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