著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI)
Nadia Akawi and Jeremy McRae and Morad Ansari and Meena Balasubramanian and Moira Blyth and Angela F Brady and Stephen Clayton and Trevor Cole and Charu Deshpande and Tomas W Fitzgerald and Nicola Foulds and Richard Francis and George Gabriel and Sebastian S Gerety and Judith Goodship and Emma Hobson and Wendy D Jones and Shelagh Joss and Daniel King and Nikolai Klena and Ajith Kumar and Melissa Lees and Chris Lelliott and Jenny Lord and Dominic McMullan and Mary O'Regan and Deborah Osio and Virginia Piombo and Elena Prigmore and Diana Rajan and Elisabeth Rosser and Alejandro Sifrim and Audrey Smith and Ganesh J Swaminathan and Peter Turnpenny and James Whitworth and Caroline F Wright and Helen V Firth and Jeffrey C Barrett and Cecilia W Lo and David R FitzPatrick and Matthew E Hurles,"Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families",Nature Genetics,1061-4036,Springer Science and Business Media LLC,2015-10-05,47,11,1363-1369,https://cir.nii.ac.jp/crid/1360292619307987584,https://doi.org/10.1038/ng.3410