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Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. [electronic resource] by
- Hofer, D
- Paul, K
- Fantur, K
- Beck, M
- Roubergue, A
- Vellodi, A
- Poorthuis, B J
- Michelakakis, H
- Plecko, B
- Paschke, E
Producer: 20110202
In:
Clinical genetics vol. 78
Availability: No items available.
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15.
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Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum. [electronic resource] by
- Ewenczyk, C
- Leroux, A
- Roubergue, A
- Laugel, V
- Afenjar, A
- Saudubray, J M
- Beauvais, P
- Billette de Villemeur, T
- Vidailhet, M
- Roze, E
Producer: 20080501
In:
Brain : a journal of neurology vol. 131
Availability: No items available.
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16.
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Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation. [electronic resource] by
- Milosevic, J
- El Khattabi, L
- Roubergue, A
- Coussement, A
- Doummar, D
- Cuisset, L
- Le Tessier, D
- Flageul, B
- Viot, G
- Lebbar, A
- Dupont, J M
Producer: 20150710
In:
American journal of medical genetics. Part A vol. 164A
Availability: No items available.
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