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Journal of medical genetics, 2005-11, Vol.42 (11), p.820-828
2005
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Human mutation, 1999, Vol.13 (6), p.417-430
1999
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Science (American Association for the Advancement of Science), 1988-12, Vol.242 (4884), p.1427-1430
1988
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Pediatrics (Evanston), 1996-04, Vol.97 (4), p.512
1996
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Biochemical and biophysical research communications, 1990-08, Vol.171 (1), p.498-505
1990
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American journal of human genetics, 1992-05, Vol.50 (5), p.998-1007
1992
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American journal of human genetics, 1987-09, Vol.41 (3), p.402-417
1987
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American Journal of Physiology: Cell Physiology, 1984-03, Vol.246 (3), p.C347-C350
1984
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American journal of medical genetics, 1993-06, Vol.46 (4), p.478-478
1993
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IUBMB life, 2009-11, Vol.61 (11), p.1063-1074
2009
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Chemico-biological interactions, 2010-12, Vol.188 (3), p.376-385
2010
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Human mutation, 2003-12, Vol.22 (6), p.434-441
2003
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The Journal of pediatrics, 2000-12, Vol.137 (6), p.833-841
2000
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The Journal of pediatrics, 2000-10, Vol.137 (4), p.S1-S47
2000
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Glycobiology (Oxford), 2003-04, Vol.13 (4), p.285-294
2003
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Genetics in medicine, 1998-11, Vol.1 (1), p.40-48
1998
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Biochemical and biophysical research communications, 2000-05, Vol.271 (2), p.392-400
2000
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Molecular genetics and metabolism, 2006-03, Vol.87 (3), p.204-209
2006
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Molecular genetics and metabolism, 2006-03, Vol.87 (3), p.198-203
2006
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Pediatric research, 2003-03, Vol.53 (3), p.396-402
2003
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Genetics in medicine, 2002-11, Vol.4 (6), p.427-433
2002
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Journal of the American Society of Nephrology, 1999-05, Vol.10 (5), p.1014-1019
1999
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JAMA : the journal of the American Medical Association, 2000-09, Vol.284 (12), p.1568
2000
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The Journal of pediatrics, 1996, Vol.128 (1), p.89-95
1996
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Molecular genetics and metabolism, 2001-09, Vol.74 (1-2), p.264-272
2001
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