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3341.
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3342.
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3343.
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Molecular insights into Peutz-Jeghers syndrome: two probands with a germline mutation of LKB1. [electronic resource] by
- Hosogi, Hisahiro
- Nagayama, Satoshi
- Kawamura, Junichiro
- Koshiba, Yasushi
- Nomura, Akinari
- Itami, Atsushi
- Okabe, Hiroshi
- Satoh, Seiji
- Watanabe, Go
- Sakai, Yoshiharu
Producer: 20081022
In:
Journal of gastroenterology vol. 43
Availability: No items available.
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3344.
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3345.
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3346.
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A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes. [electronic resource] by
- Dufke, Claudia
- Schlipf, Nina
- Schüle, Rebecca
- Bonin, Michael
- Auer-Grumbach, Michaela
- Stevanin, Giovanni
- Depienne, Christel
- Kassubek, Jan
- Klebe, Stephan
- Klimpe, Sven
- Klopstock, Thomas
- Otto, Susanne
- Poths, Sven
- Seibel, Andrea
- Stolze, Henning
- Gal, Andreas
- Schöls, Ludger
- Bauer, Peter
Producer: 20130111
In:
Neurogenetics vol. 13
Availability: No items available.
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3347.
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3348.
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3349.
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3350.
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3351.
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3352.
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Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. [electronic resource] by
- Hasselblatt, Martin
- Gesk, Stefan
- Oyen, Florian
- Rossi, Sabrina
- Viscardi, Elisabetta
- Giangaspero, Felice
- Giannini, Caterina
- Judkins, Alexander R
- Frühwald, Michael C
- Obser, Tobias
- Schneppenheim, Reinhard
- Siebert, Reiner
- Paulus, Werner
Producer: 20110712
In:
The American journal of surgical pathology vol. 35
Availability: No items available.
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3353.
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3354.
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3355.
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3356.
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3357.
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3358.
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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. [electronic resource] by
- Baxter, Rachel V
- Ben Othmane, Kamel
- Rochelle, Julie M
- Stajich, Jason E
- Hulette, Christine
- Dew-Knight, Susan
- Hentati, Faycal
- Ben Hamida, Mongi
- Bel, S
- Stenger, Judy E
- Gilbert, John R
- Pericak-Vance, Margaret A
- Vance, Jeffery M
Producer: 20020204
In:
Nature genetics vol. 30
Availability: No items available.
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3359.
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3360.
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