✦ LIBER ✦

Mutation (variation) databases and registries: a rationale for coordination of efforts

✍ Scribed by Auerbach, Arleen D.; Burn, John; Cassiman, Jean-Jacques; Claustres, Mireille; Cotton, Richard G. H.; Cutting, Garry; den Dunnen, Johan T.; El-Ruby, Mona; Vargas, Aida Falcon; Greenblatt, Marc S.; Macrae, Finlay; Matsubara, Yoichi; Rimoin, David L.; Vihinen, Mauno; Van Broeckhoven, Christine

Book ID: 109953408
Publisher: Nature Publishing Group
Year: 2011
Tongue: English
Weight: 112 KB
Volume: 12
Category: Article
ISSN: 1471-0056
DOI: 10.1038/nrg3011-c1

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Response to 'Mutation (variation) databa

Response to 'Mutation (variation) databases and registries: a rationale for coordination of efforts': an IRDiRC perspective

✍ Aymé, Ségolène; Terry, Sharon F.; Groft, Stephen 📂 Article 📅 2011 🏛 Nature Publishing Group 🌐 English ⚖ 90 KB

A coordinated effort for observations an

A coordinated effort for observations and theories of the natural satellites

✍ P. K. Seidelmann 📂 Article 📅 1975 🏛 Springer Netherlands 🌐 English ⚖ 69 KB

The Outcome of PCI for stent-ThrombosIs

The Outcome of PCI for stent-ThrombosIs MultIcentre Study (OPTIMIST): Rationale and design of a multicenter registry

✍ Francesco Burzotta; Enrico Romagnoli; Alessandro Manzoli; Christian Pristipino; 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 97 KB

Pregnancy registry system. A model datab

Pregnancy registry system. A model database system for collection, dissemination, and analysis of data in multiple international prenatal drug exposure registries

✍ RE Eldridge; B Coleman 📂 Article 📅 1995 🏛 Elsevier Science 🌐 English ⚖ 137 KB

The international dystrophic epidermolys

The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

✍ Peter C. van den Akker; Marcel F. Jonkman; Trebor Rengaw; Leena Bruckner-Tuderma 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 353 KB

Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder that can be inherited autosomal dominantly (DDEB) or recessively (RDEB) and covers a group of several distinctive phenotypes. A large number of unique COL7A1 mutations have been shown to underlie DEB. Although general genotype

Including the effects of prior and recen

Including the effects of prior and recent contact effort in a customer scoring model for database marketing

✍ Subom Rhee; Shelby McIntyre 📂 Article 📅 2008 🏛 Sage Publications 🌐 English ⚖ 259 KB