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Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. [electronic resource] by
- Schimmenti, L A
- Shim, H H
- Wirtschafter, J D
- Panzarino, V A
- Kashtan, C E
- Kirkpatrick, S J
- Wargowski, D S
- France, T D
- Michel, E
- Dobyns, W B
Producer: 20000106
In:
Human mutation vol. 14
Availability: No items available.
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Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. [electronic resource] by
- Kohlhase, J
- Taschner, P E
- Burfeind, P
- Pasche, B
- Newman, B
- Blanck, C
- Breuning, M H
- ten Kate, L P
- Maaswinkel-Mooy, P
- Mitulla, B
- Seidel, J
- Kirkpatrick, S J
- Pauli, R M
- Wargowski, D S
- Devriendt, K
- Proesmans, W
- Gabrielli, O
- Coppa, G V
- Wesby-van Swaay, E
- Trembath, R C
- Schinzel, A A
- Reardon, W
- Seemanova, E
- Engel, W
Producer: 19990413
In:
American journal of human genetics vol. 64
Availability: No items available.
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