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A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. [electronic resource] by
- Tranebjaerg, L
- Schwartz, C
- Eriksen, H
- Andreasson, S
- Ponjavic, V
- Dahl, A
- Stevenson, R E
- May, M
- Arena, F
- Barker, D
Producer: 19950918
In:
Journal of medical genetics vol. 32
Availability: No items available.
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XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. [electronic resource] by
- Lubs, H
- Abidi, F
- Bier, J A
- Abuelo, D
- Ouzts, L
- Voeller, K
- Fennell, E
- Stevenson, R E
- Schwartz, C E
- Arena, F
Producer: 20000517
In:
American journal of medical genetics vol. 85
Availability: No items available.
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Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. [electronic resource] by
- Tackels-Horne, D
- Toburen, A
- Sangiorgi, E
- Gurrieri, F
- de Mollerat, X
- Fischetto, R
- Causio, F
- Clarkson, K
- Stevenson, R E
- Schwartz, C E
Producer: 20010322
In:
Clinical genetics vol. 59
Availability: No items available.
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