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Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation. [electronic resource] by
- Friez, M J
- Essop, F B
- Krause, A
- Castiglia, L
- Ragusa, A
- Sossey-Alaoui, K
- Nelson, R L
- May, M M
- Michaelis, R C
- Srivastava, A K
- Schwartz, C E
- Stevenson, R E
- Goldman, A
- Villard, L
- Longshore, J W
Producer: 20000922
In:
Human genetics vol. 106
Availability: No items available.
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142.
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Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. [electronic resource] by
- Lyons, M J
- Graham, J M
- Neri, G
- Hunter, A G W
- Clark, R D
- Rogers, R C
- Moscarda, M
- Boccuto, L
- Simensen, R
- Dodd, J
- Robertson, S
- DuPont, B R
- Friez, M J
- Schwartz, C E
- Stevenson, R E
Producer: 20090205
In:
Journal of medical genetics vol. 46
Availability: No items available.
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143.
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Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X). [electronic resource] by
- Basehore, M J
- Michaelson-Cohen, R
- Levy-Lahad, E
- Sismani, C
- Bird, L M
- Friez, M J
- Walsh, T
- Abidi, F
- Holloway, L
- Skinner, C
- McGee, S
- Alexandrou, A
- Syrrou, M
- Patsalis, P C
- Raymond, G
- Wang, T
- Schwartz, C E
- King, M-C
- Stevenson, R E
Producer: 20160104
In:
Clinical genetics vol. 87
Availability: No items available.
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144.
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Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. [electronic resource] by
- Vargas, F R
- Roessler, E
- Gaudenz, K
- Belloni, E
- Whitehead, A S
- Kirke, P N
- Mills, J L
- Hooper, G
- Stevenson, R E
- Cordeiro, I
- Correia, P
- Felix, T
- Gereige, R
- Cunningham, M L
- Canún, S
- Antonarakis, S E
- Strachan, T
- Tsui, L C
- Scherer, S W
- Muenke, M
Producer: 19980610
In:
Human genetics vol. 102
Availability: No items available.
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