نتایج جستجو برای: ciliopathy

تعداد نتایج: 423  

2017
Sarah C Goetz Fiona Bangs Chloe L Barrington Nicholas Katsanis Kathryn V Anderson

The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the proteins encoded by ciliopathy-associated genes are components of a handful of multi-protein complexes important for the transport of cargo to the basal body and/or i...

2015
Elizabeth N. Schock Ching-Fang Chang Jaime N. Struve Ya-Ting Chang Julie Chang Mary E. Delany Samantha A. Brugmann

Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized byoral-facial abnormalities, includingcleft lip and/orpalate, broadnasal root, dental anomalies, micrognathia and glossal defects. In addition, these individuals have several other characteristic abnormalities that are typical of a ciliopathy, including polysyndactyly, polycystic kidneys and hypoplasia of the cerebellum. R...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید