JK Richer

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An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole-exome sequencing (WES), are identifying the genetic basis of disease for 25-40% of patients. The diagnostic rate is probably influenced by when in the diagnostic process WES is used. The Finding Of Rare(More)
The Concise Guide to PHARMACOLOGY 2015/16 provides concise overviews of the key properties of over 1750 human drug targets with their pharmacology, plus links to an open access knowledgebase of drug targets and their ligands (www.guidetopharmacology.org), which provides more detailed views of target and ligand properties. compilation of the major(More)
Direct observation and previous studies suggest autistic children actively avoid social encounters more than normal children, and concommitantly, act as if threatened by the mere proximity or non-threatening approaches of others. A study is reported which supports this. The 'cognitive-language handicap' theory of autism is criticized in the light of these(More)
Hi-GAL, the Herschel infrared Galactic Plane Survey, is an Open Time Key Project of the Herschel Space Observatory. It will make an unbiased photometric survey of the inner Galactic Plane by mapping a two-degree wide strip in the longitude range | l |< 60 • in five wavebands between 70µm and 500µm. The aim of Hi-GAL is to detect the earliest phases of the(More)
Copyright and Moral Rights for the articles on this site are retained by the individual authors and/or other copyright owners. For more information on Open Research Online's data policy on reuse of materials please consult the policies page. Abstract We present 450 and 850 μm submillimeter continuum observations of the IC 5146 star-forming region taken as(More)
Copyright and Moral Rights for the articles on this site are retained by the individual authors and/or other copyright owners. For more information on Open Research Online's data policy on reuse of materials please consult the policies page. ABSTRACT We present SCUBA-2 450 µm and 850 µm observations of the W40 complex in the Serpens-Aquila region as part of(More)
This memo investigates the properties of atmospheric turbulence above the ALMA site using measurements from the Water Vapour Radiometers (WVRs), in particular testing the Kolmogorov turbulence model and searching for evidence of an outer length scale. We fit model power-spectral density (PSD) curves to the measured power spectra for a number of observations(More)
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