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Found 5 results

2006
Tierney E, Bukelis I, Thompson RE, Ahmed K, Aneja A, Kratz L, Kelley RI.  2006.  Abnormalities of cholesterol metabolism in autism spectrum disorders.. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 141B(6):666-8. Abstract
2003
Naidu S, Bibat G, Kratz L, Kelley RI, Pevsner J, Hoffman E, Cuffari C, Rohde C, Blue ME, Johnston MV.  2003.  Clinical variability in Rett syndrome.. Journal of child neurology. 18(10):662-8. Abstract
Cooper MK, Wassif CA, Krakowiak PA, Taipale J, Gong R, Kelley RI, Porter FD, Beachy PA.  2003.  A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis.. Nature genetics. 33(4):508-13. Abstract
2002
Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton HD.  2002.  Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.. American journal of medical genetics. 112(4):318-26. Abstract
Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Wolf LM, Jabs EW.  2002.  Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.. American journal of medical genetics. 110(2):95-102. Abstract

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