Publication

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

Related publications (78)

About
Privacy
Disclaimer

Graph Chatbot

Chat with Graph Search

Ask any question about EPFL courses, lectures, exercises, research, news, etc. or try the example questions below.

DISCLAIMER: The Graph Chatbot is not programmed to provide explicit or categorical answers to your questions. Rather, it transforms your questions into API requests that are distributed across the various IT services officially administered by EPFL. Its purpose is solely to collect and recommend relevant references to content that you can explore to help you answer your questions.

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

Graph Chatbot

Chat with Graph Search

A DNA Coarse-Grain Rigid Base Model and Parameter Estimation from Molecular Dynamics Simulations

Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors

Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia

Grouping trumps pooling and centroids in crowding

NR2E3 Mutations in Enhanced S-Cone Sensitivity Syndrome (ESCS), Goldmann-Favre Syndrome (GFS), Clumped Pigmentary Retinal Degeneration (CPRD), and Retinitis Pigmentosa (RP)

Germline mutations in retinoma patients: Relevance to low-penetrance and low-expressivity molecular basis

Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome

VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

A novel dominant mutation of the Na(v)1.4 alpha-subunit domain I leading to sodium channel myotonia