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4008.
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Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds. [electronic resource] by
- Mansour, Tamer A
- Lucot, Katherine
- Konopelski, Sara E
- Dickinson, Peter J
- Sturges, Beverly K
- Vernau, Karen L
- Choi, Shannon
- Stern, Joshua A
- Thomasy, Sara M
- Döring, Sophie
- Verstraete, Frank J M
- Johnson, Eric G
- York, Daniel
- Rebhun, Robert B
- Ho, Hsin-Yi Henry
- Brown, C Titus
- Bannasch, Danika L
Producer: 20190304
In:
PLoS genetics vol. 14
Availability: No items available.
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4009.
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4010.
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4011.
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A syndrome with congenital neutropenia and mutations in G6PC3. [electronic resource] by
- Boztug, Kaan
- Appaswamy, Giridharan
- Ashikov, Angel
- Schäffer, Alejandro A
- Salzer, Ulrich
- Diestelhorst, Jana
- Germeshausen, Manuela
- Brandes, Gudrun
- Lee-Gossler, Jacqueline
- Noyan, Fatih
- Gatzke, Anna-Katherina
- Minkov, Milen
- Greil, Johann
- Kratz, Christian
- Petropoulou, Theoni
- Pellier, Isabelle
- Bellanné-Chantelot, Christine
- Rezaei, Nima
- Mönkemöller, Kirsten
- Irani-Hakimeh, Noha
- Bakker, Hans
- Gerardy-Schahn, Rita
- Zeidler, Cornelia
- Grimbacher, Bodo
- Welte, Karl
- Klein, Christoph
Producer: 20090116
In:
The New England journal of medicine vol. 360
Availability: No items available.
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4012.
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4013.
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Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature. [electronic resource] by
- Narumi, Yoko
- Kosho, Tomoki
- Tsuruta, Goro
- Shiohara, Masaaki
- Shimazaki, Ei
- Mori, Tetsuo
- Shimizu, Ayako
- Igawa, Yasuhiko
- Nishizawa, Shuji
- Takagi, Kimiyo
- Kawamura, Rie
- Wakui, Keiko
- Fukushima, Yoshimitsu
Producer: 20110315
In:
American journal of medical genetics. Part A vol. 152A
Availability: No items available.
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4014.
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4015.
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4016.
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4017.
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4018.
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Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. [electronic resource] by
- Pelletier, J
- Bruening, W
- Kashtan, C E
- Mauer, S M
- Manivel, J C
- Striegel, J E
- Houghton, D C
- Junien, C
- Habib, R
- Fouser, L
Producer: 19911121
In:
Cell vol. 67
Availability: No items available.
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4019.
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4020.
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[Abnormalities of the urogenital system. Surgical indication and technic in adults]. [electronic resource] by
- Anemüller, K
- Bigalli, A
- Bihler, K
- Bressel, M
- Brühl, P
- Burwick, P
- Frink, P
- Gerecht, W
- Gundlach, G
- Hanschke, H J
- Haubensack, K
- Heravi, P B
- Kemper, K
- Kneip, R
- König, K
- Krämer, D
- Laubenberger, T
- Malatinsky, E
- May, P
- Moormann, J G
- Opelt, B
- Schäfer, H
- Sökeland, J
Producer: 19700205
In:
Der Urologe vol. 8
Availability: No items available.
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