Results
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21.
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Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. [electronic resource] by
- Horsthemke, B
- Maat-Kievit, A
- Sleegers, E
- van den Ouweland, A
- Buiting, K
- Lich, C
- Mollevanger, P
- Beverstock, G
- Gillessen-Kaesbach, G
- Schwanitz, G
Producer: 19970221
In:
Journal of medical genetics vol. 33
Availability: No items available.
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22.
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23.
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24.
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25.
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Large deletion at the TSC1 locus in a family with tuberous sclerosis complex. [electronic resource] by
- Nellist, M
- Sancak, O
- Goedbloed, M A
- van Veghel-Plandsoen, M
- Maat-Kievit, A
- Lindhout, D
- Eussen, B H
- de Klein, A
- Halley, D J J
- van den Ouweland, A M W
Producer: 20060124
In:
Genetic testing vol. 9
Availability: No items available.
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26.
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Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. [electronic resource] by
- Wentink, M
- Nellist, M
- Hoogeveen-Westerveld, M
- Zonnenberg, B
- van der Kolk, D
- van Essen, T
- Park, S-M
- Woods, G
- Cohn-Hokke, P
- Brussel, W
- Smeets, E
- Brooks, A
- Halley, D
- van den Ouweland, A
- Maat-Kievit, A
Producer: 20120807
In:
Clinical genetics vol. 81
Availability: No items available.
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