Results
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14301.
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14302.
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Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. [electronic resource] by
- Jaeken, J
- Matthijs, G
- Saudubray, J M
- Dionisi-Vici, C
- Bertini, E
- de Lonlay, P
- Henri, H
- Carchon, H
- Schollen, E
- Van Schaftingen, E
Producer: 19980624
In:
American journal of human genetics vol. 62
Availability: No items available.
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14303.
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A triplet repeat on 17q accounts for most expansions detected by the repeat-expansion-detection technique. [electronic resource] by
- Sidransky, E
- Burgess, C
- Ikeuchi, T
- Lindblad, K
- Long, R T
- Philibert, R A
- Rapoport, J
- Schalling, M
- Tsuji, S
- Ginns, E I
Producer: 19980624
In:
American journal of human genetics vol. 62
Availability: No items available.
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14304.
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Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders. [electronic resource] by
- Imamura, A
- Tsukamoto, T
- Shimozawa, N
- Suzuki, Y
- Zhang, Z
- Imanaka, T
- Fujiki, Y
- Orii, T
- Kondo, N
- Osumi, T
Producer: 19980624
In:
American journal of human genetics vol. 62
Availability: No items available.
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14305.
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Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. [electronic resource] by
- Neuhausen, S L
- Godwin, A K
- Gershoni-Baruch, R
- Schubert, E
- Garber, J
- Stoppa-Lyonnet, D
- Olah, E
- Csokay, B
- Serova, O
- Lalloo, F
- Osorio, A
- Stratton, M
- Offit, K
- Boyd, J
- Caligo, M A
- Scott, R J
- Schofield, A
- Teugels, E
- Schwab, M
- Cannon-Albright, L
- Bishop, T
- Easton, D
- Benitez, J
- King, M C
- Ponder, B A
- Weber, B
- Devilee, P
- Borg, A
- Narod, S A
- Goldgar, D
Producer: 19980624
In:
American journal of human genetics vol. 62
Availability: No items available.
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14306.
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Linkage of familial Hibernian fever to chromosome 12p13. [electronic resource] by
- McDermott, M F
- Ogunkolade, B W
- McDermott, E M
- Jones, L C
- Wan, Y
- Quane, K A
- McCarthy, J
- Phelan, M
- Molloy, M G
- Powell, R J
- Amos, C I
- Hitman, G A
Producer: 19980624
In:
American journal of human genetics vol. 62
Availability: No items available.
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14307.
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14308.
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14309.
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14310.
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14311.
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14312.
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Formation of the 67-kDa laminin receptor by acylation of the precursor. [electronic resource] by
- Butò, S
- Tagliabue, E
- Ardini, E
- Magnifico, A
- Ghirelli, C
- van den Brûle, F
- Castronovo, V
- Colnaghi, M I
- Sobel, M E
- Ménard, S
Producer: 19980610
In:
Journal of cellular biochemistry vol. 69
Availability: No items available.
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14313.
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14314.
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14315.
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14316.
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14317.
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14318.
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14319.
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14320.
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