AAAAAA

   
Results: 1-9 |
Results: 9
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency
Authors: Albers, S Levy, HL Irons, M Strauss, AW Marsden, D
Citation: S. Albers et al., Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency, J INH MET D, 24(3), 2001, pp. 417-418
Clinical picture: multicolour karyotyping
Authors: Lee, C Murray, MF Miron, PM Marsden, D Irons, M Wilkins-Haug, LE Morton, CC
Citation: C. Lee et al., Clinical picture: multicolour karyotyping, LANCET, 357(9264), 2001, pp. 1240-1240
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry
Authors: Albers, S Marsden, D Quackenbush, E Stark, AR Levy, HL Irons, M
Citation: S. Albers et al., Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry, PEDIATRICS, 107(6), 2001, pp. NIL_97-NIL_100
Identification of a fatty acid Delta(6)-desaturase deficiency in human skin fibroblasts
Authors: Williard, DE Nwankwo, JO Kaduce, TL Harmon, SD Irons, M Moser, HW Raymond, GV Spector, AA
Citation: De. Williard et al., Identification of a fatty acid Delta(6)-desaturase deficiency in human skin fibroblasts, J LIPID RES, 42(4), 2001, pp. 501-508
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome
Authors: Yu, HW Lee, MH Starck, L Elias, ER Irons, M Salen, G Patel, SB Tint, GS
Citation: Hw. Yu et al., Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome, HUM MOL GEN, 9(9), 2000, pp. 1385-1391
Spectrum of Delta 7-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome (vol 9, pg 1385, 2000)
Authors: Yu, HW Lee, MH Starck, L Elias, ER Irons, M Salen, G Patel, SB Tint, GS
Citation: Hw. Yu et al., Spectrum of Delta 7-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome (vol 9, pg 1385, 2000), HUM MOL GEN, 9(12), 2000, pp. 1903-1903
Cerebral infarction in Menkes' disease
Authors: Hsich, GE Robertson, RL Irons, M Soul, JS du Plessis, AJ
Citation: Ge. Hsich et al., Cerebral infarction in Menkes' disease, PED NEUROL, 23(5), 2000, pp. 425-428
Gomez-Lopez-Hernandez syndrome: Expansion of the phenotype
Authors: Brocks, D Irons, M Sadeghi-Najad, A McCauley, R Wheeler, P
Citation: D. Brocks et al., Gomez-Lopez-Hernandez syndrome: Expansion of the phenotype, AM J MED G, 94(5), 2000, pp. 405-408
Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses
Authors: Bradley, LA Palomaki, GE Knight, GJ Haddow, JE Opitz, JM Irons, M Kelley, RI Tint, GS
Citation: La. Bradley et al., Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses, AM J MED G, 82(4), 1999, pp. 355-358
Risultati: 1-9 |