From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology
- Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort.
Orphanet journal of rare diseases 2016 Dec 11 (1): 165.
Pacheco Yves, Calender Alain, Israël-Biet Dominique, Roy Pascal, Lebecque Serge, Cottin Vincent, Bouvry Diane, Nunes Hilario, Sève Pascal, Pérard Laurent, Devouassoux Gilles, Freymond Nathalie, Khouatra Chahira, Wallaert Benoît, Lamy Raphaelle, Elsensohn Mad-Hélénie, Bardel Claire, Valeyre Dominique, - Genetic variation: ExAC boosts clinical variant interpretation in rare diseases.
Nature reviews. Genetics 2016 Sep 17 (10): 584.
Bahcall Orli - Eosinophilic gastroenteritis in a patient with Bruton's tyrosine kinase deficiency.
Pediatrics international : official journal of the Japan Pediatric Society 2016 Feb .
Yamazaki Susumu, Ohtsuka Yoshikazu, Yokokura Tomoaki, Yokota Rena, Honjo Asuka, Inage Eisuke, Baba Yosuke, Mori Mari, Suzuki Ryuyo, Iwata Tsutomu, Shimizu Toshia - Importance of glucokinase -258G/A polymorphism in Asian Indians with post-transplant and type 2 diabetes mellitus.
Intractable & rare diseases research 2016 Feb 5 (1): 25-30.
Khan Imran Ali, Vattam Kiran Kumar, Jahan Parveen, Hasan Qurratulain, Rao Prag - Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015.
Orphanet journal of rare diseases 2016 11 (1): 75.
Greulich Timm, Nell Christoph, Herr Christian, Vogelmeier Claus, Kotke Viktor, Wiedmann Stefan, Wencker Marion, Bals Robert, Koczulla Andreas Rembe
From Guideline Database
This database contains updated guidelines, policies and recommendations on genomic research and practice, as provided by professional organizations, federal advisory groups, expert panels and policy groups.
- Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.
Published 2015 (Expert panel) - Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.
Published 2015 (Expert panel) - Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Published 2014 (International Union of Immunological Societies Expert Committee for Primary Immunodeficiency) - A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.
Published 2014 (Expert group)
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