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Results:
1-10
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Results: 10
Authors:
Trbusek, M
Francova, H
Kozak, L
Citation: M. Trbusek et al., Galactosemia: deletion in the 5 ' upstream region of the GALT gene reducespromoter efficiency, HUM GENET, 109(1), 2001, pp. 117-120
Authors:
Rudolfova, J
Slovackova, R
Trbusek, M
Peskova, K
St'astna, S
Kozak, L
Citation: J. Rudolfova et al., Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis, J INH MET D, 24(1), 2001, pp. 85-87
Authors:
Popescu, T
Popescu, A
Oltean, L
Kozak, L
Blazkova, M
Jebeleanu, G
Citation: T. Popescu et al., Retrospective neuropsychological evaluation of 18 Romanian subjects with hyperphenylalaninaemia, ACT PAEDIAT, 89(12), 2000, pp. 1502-1503
Authors:
Bzduch, V
Kozak, L
Francova, H
Behulova, D
Citation: V. Bzduch et al., Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis, AM J MED G, 95(1), 2000, pp. 85-85
Authors:
Bzduch, V
Behulova, D
Kozak, L
Skodova, J
Veghova, E
Dello Russo, A
Corso, G
Bauer, F
Citation: V. Bzduch et al., Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol, J INH MET D, 23(6), 2000, pp. 638-639
Authors:
Kozak, L
Francova, H
Hrabincova, E
Prochazkova, D
Juttnerova, V
Bzduch, V
Simek, P
Citation: L. Kozak et al., Smith-Lemli-Opitz syndrome: Molecular-genetic analysis of ten families, J INH MET D, 23(4), 2000, pp. 409-412
Authors:
Moore, TR
Trofymow, JA
Taylor, B
Prescott, C
Camire, C
Duschene, L
Fyles, J
Kozak, L
Kranabetter, M
Morrison, I
Siltanen, M
Smith, S
Titus, B
Visser, S
Wein, R
Zoltai, S
Citation: Tr. Moore et al., Litter decomposition rates in Canadian forests, GL CHANGE B, 5(1), 1999, pp. 75-82
Authors:
Tyfield, L
Reichardt, J
Fridovich-Keil, J
Croke, DT
Elsas, LJ
Strobl, W
Kozak, L
Coskun, T
Novelli, G
Okano, Y
Zekanowski, C
Shin, Y
Boleda, MD
Citation: L. Tyfield et al., Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene, HUM MUTAT, 13(6), 1999, pp. 417-430
Authors:
Pekarik, V
Blazkova, M
Kozak, L
Citation: V. Pekarik et al., Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic, AM J MED G, 84(3), 1999, pp. 214-216
Authors:
Kozak, L
Francova, H
Pijackova, A
Macku, J
Stastna, S
Peskovova, K
Martincova, O
Krijt, J
Citation: L. Kozak et al., Presence of a deletion in the 5 ' upstream region of the GALT gene in Duarte (D2) alleles, J MED GENET, 36(7), 1999, pp. 576-578
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