Published in J Inherit Metab Dis on January 01, 1989
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Crystallization and preliminary X-Ray analysis of rotavirus protein VP6. J Virol (1998) 0.98
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IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. Mol Syndromol (2010) 0.95
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. Hum Genet (2013) 0.94
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Determination of total fatty acids in plasma: cis-5-tetradecenoic acid (C14:1 omega-9) in the diagnosis of long-chain fatty acid oxidation defects. J Inherit Metab Dis (1999) 0.90
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Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation. J Inherit Metab Dis (1995) 0.88
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Hunter syndrome: gene deletions and rearrangements. Hum Mutat (1993) 0.88
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A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata. Hum Mol Genet (1993) 0.84
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Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry. J Inherit Metab Dis (1997) 0.84
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