Results
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5201.
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5202.
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5210.
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5211.
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5212.
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5213.
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5214.
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5215.
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5216.
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Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. [electronic resource] by
- Lin, Zhimiao
- Zhao, Jiahui
- Nitoiu, Daniela
- Scott, Claire A
- Plagnol, Vincent
- Smith, Frances J D
- Wilson, Neil J
- Cole, Christian
- Schwartz, Mary E
- McLean, W H Irwin
- Wang, Huijun
- Feng, Cheng
- Duo, Lina
- Zhou, Eray Yihui
- Ren, Yali
- Dai, Lanlan
- Chen, Yulan
- Zhang, Jianguo
- Xu, Xun
- O'Toole, Edel A
- Kelsell, David P
- Yang, Yong
Producer: 20150512
In:
American journal of human genetics vol. 96
Availability: No items available.
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5217.
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De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. [electronic resource] by
- Chong, Jessica X
- McMillin, Margaret J
- Shively, Kathryn M
- Beck, Anita E
- Marvin, Colby T
- Armenteros, Jose R
- Buckingham, Kati J
- Nkinsi, Naomi T
- Boyle, Evan A
- Berry, Margaret N
- Bocian, Maureen
- Foulds, Nicola
- Uzielli, Maria Luisa Giovannucci
- Haldeman-Englert, Chad
- Hennekam, Raoul C M
- Kaplan, Paige
- Kline, Antonie D
- Mercer, Catherine L
- Nowaczyk, Malgorzata J M
- Klein Wassink-Ruiter, Jolien S
- McPherson, Elizabeth W
- Moreno, Regina A
- Scheuerle, Angela E
- Shashi, Vandana
- Stevens, Cathy A
- Carey, John C
- Monteil, Arnaud
- Lory, Philippe
- Tabor, Holly K
- Smith, Joshua D
- Shendure, Jay
- Nickerson, Deborah A
- Bamshad, Michael J
Producer: 20150512
In:
American journal of human genetics vol. 96
Availability: No items available.
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5218.
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5219.
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5220.
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