Philip M James

Philip M James

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Philip M James

Philip M James

Publications by authors named "Philip M James"

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Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

J Clin Endocrinol Metab 2015 May 17;100(5):1723-30. Epub 2015 Mar 17.

Division of Endocrinology (V.V.T., J.N.H.), Newborn Medicine (K.M.E., P.B.A.), and Genetics and Genomics (M.C.T., C.A.B., L.C., A.H.B., J.P., P.B.A.), Department of Medicine, and Gene Discovery Core (M.C.T., C.A.B., L.C., A.H.B., J.P., P.B.A.), The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115; Genetics and Metabolism (P.M.J.), Phoenix Children's Hospital, Phoenix, Arizona 85006; and Department of Molecular and Human Genetics (S.H.E.), Baylor College of Medicine, Houston, Texas 77030.

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http://dx.doi.org/10.1210/jc.2014-4215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422892PMC
May 2015

The clinical aspects of newborn screening: importance of newborn screening follow-up.

Ment Retard Dev Disabil Res Rev 2006 ;12(4):246-54

Division of Genetics, Children's Hospital Boston, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://doi.wiley.com/10.1002/mrdd.20120
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http://dx.doi.org/10.1002/mrdd.20120DOI Listing
March 2007