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Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. [electronic resource] by
- Isrie, Mala
- Breuss, Martin
- Tian, Guoling
- Hansen, Andi Harley
- Cristofoli, Francesca
- Morandell, Jasmin
- Kupchinsky, Zachari A
- Sifrim, Alejandro
- Rodriguez-Rodriguez, Celia Maria
- Dapena, Elena Porta
- Doonanco, Kurston
- Leonard, Norma
- Tinsa, Faten
- Moortgat, Stéphanie
- Ulucan, Hakan
- Koparir, Erkan
- Karaca, Ender
- Katsanis, Nicholas
- Marton, Valeria
- Vermeesch, Joris Robert
- Davis, Erica E
- Cowan, Nicholas J
- Keays, David Anthony
- Van Esch, Hilde
Producer: 20160322
In:
American journal of human genetics vol. 97
Availability: No items available.
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Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes. [electronic resource] by
- Gironi, Laura Cristina
- Zottarelli, Francesca
- Savoldi, Gianfranco
- Notarangelo, Lucia Dora
- Basso, Maria Eleonora
- Ferrero, Ivana
- Timeus, Fabio
- Fagioli, Franca
- Maiuri, Luigi
- Colombo, Enrico
- Savoia, Paola
Producer: 20191001
In:
Medicina (Kaunas, Lithuania) vol. 55
Availability: No items available.
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1808.
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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. [electronic resource] by
- Verdin, Hannah
- D'haene, Barbara
- Beysen, Diane
- Novikova, Yana
- Menten, Björn
- Sante, Tom
- Lapunzina, Pablo
- Nevado, Julian
- Carvalho, Claudia M B
- Lupski, James R
- De Baere, Elfride
Producer: 20130613
In:
PLoS genetics vol. 9
Availability: No items available.
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Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. [electronic resource] by
- Ayturk, Ugur M
- Couto, Javier A
- Hann, Steven
- Mulliken, John B
- Williams, Kaitlin L
- Huang, August Yue
- Fishman, Steven J
- Boyd, Theonia K
- Kozakewich, Harry P W
- Bischoff, Joyce
- Greene, Arin K
- Warman, Matthew L
Producer: 20160829
In:
American journal of human genetics vol. 98
Availability: No items available.
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1816.
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Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. [electronic resource] by
- Przylepa, K A
- Paznekas, W
- Zhang, M
- Golabi, M
- Bias, W
- Bamshad, M J
- Carey, J C
- Hall, B D
- Stevenson, R
- Orlow, S
- Cohen, M M
- Jabs, E W
Producer: 19960905
In:
Nature genetics vol. 13
Availability: No items available.
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