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GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. [electronic resource] by
- Paznekas, William A
- Karczeski, Barbara
- Vermeer, Sascha
- Lowry, R Brian
- Delatycki, Martin
- Laurence, Faivre
- Koivisto, Pasi A
- Van Maldergem, Lionel
- Boyadjiev, Simeon A
- Bodurtha, Joann N
- Jabs, Ethylin Wang
Producer: 20090730
In:
Human mutation vol. 30
Availability: No items available.
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Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. [electronic resource] by
- Paznekas, William A
- Boyadjiev, Simeon A
- Shapiro, Robert E
- Daniels, Otto
- Wollnik, Bernd
- Keegan, Catherine E
- Innis, Jeffrey W
- Dinulos, Mary Beth
- Christian, Cathy
- Hannibal, Mark C
- Jabs, Ethylin Wang
Producer: 20030318
In:
American journal of human genetics vol. 72
Availability: No items available.
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5.
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Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. [electronic resource] by
- Cai, Juanliang
- Goodman, Barbara K
- Patel, Ankita S
- Mulliken, John B
- Van Maldergem, Lionel
- Hoganson, George E
- Paznekas, William A
- Ben-Neriah, Ziva
- Sheffer, Ruth
- Cunningham, Michael L
- Daentl, Donna L
- Jabs, Ethylin Wang
Producer: 20040323
In:
Human genetics vol. 114
Availability: No items available.
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Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation. [electronic resource] by
- Krejci, Pavel
- Aklian, Anie
- Kaucka, Marketa
- Sevcikova, Eva
- Prochazkova, Jirina
- Masek, Jan Kukla
- Mikolka, Pavol
- Pospisilova, Tereza
- Spoustova, Tereza
- Weis, MaryAnn
- Paznekas, William A
- Wolf, Joshua H
- Gutkind, J Silvio
- Wilcox, William R
- Kozubik, Alois
- Jabs, Ethylin Wang
- Bryja, Vitezslav
- Salazar, Lisa
- Vesela, Iva
- Balek, Lukas
Producer: 20120913
In:
PloS one vol. 7
Availability: No items available.
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