Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome-Reference-Cited by-同舟云学术

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome

Published:2015-05 Issue:9980 Volume:385 Page:1916
ISSN:0140-6736
Container-title:The Lancet
language:en
Short-container-title:The Lancet

Author:

Ellingford Jamie M,Sergouniotis Panagiotis I,Lennon Rachel,Bhaskar Sanjeev,Williams Simon G,Hillman Kate A,O'Sullivan James,Hall Georgina,Ramsden Simon C,Lloyd I Christopher,Woolf Adrian S,Black Graeme C M

Publisher

Elsevier BV

Subject

General Medicine

Reference4 articles.

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2. Sequencing technologies—the next generation;Metzker;Nat Rev Genet,2010

3. Variations in NPHP5 in patients with nonsyndromic Leber congenital amaurosis and Senior-Loken syndrome;Stone;Arch Ophthalmol,2011

4. Late referral for end-stage renal disease: a region-wide survey in the south west of England;Roderick;Nephrol Dial Transplant,2002

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