Results
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3421.
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3422.
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3423.
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3424.
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3425.
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3426.
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3427.
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3428.
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Discovery of Clinically Approved Agents That Promote Suppression of Cystic Fibrosis Transmembrane Conductance Regulator Nonsense Mutations. [electronic resource] by
- Mutyam, Venkateshwar
- Du, Ming
- Xue, Xiaojiao
- Keeling, Kim M
- White, E Lucile
- Bostwick, J Robert
- Rasmussen, Lynn
- Liu, Bo
- Mazur, Marina
- Hong, Jeong S
- Falk Libby, Emily
- Liang, Feng
- Shang, Haibo
- Mense, Martin
- Suto, Mark J
- Bedwell, David M
- Rowe, Steven M
Producer: 20170707
In:
American journal of respiratory and critical care medicine vol. 194
Availability: No items available.
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3429.
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A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. [electronic resource] by
- Weren, Robbert D A
- Ligtenberg, Marjolijn J L
- Kets, C Marleen
- de Voer, Richarda M
- Verwiel, Eugène T P
- Spruijt, Liesbeth
- van Zelst-Stams, Wendy A G
- Jongmans, Marjolijn C
- Gilissen, Christian
- Hehir-Kwa, Jayne Y
- Hoischen, Alexander
- Shendure, Jay
- Boyle, Evan A
- Kamping, Eveline J
- Nagtegaal, Iris D
- Tops, Bastiaan B J
- Nagengast, Fokko M
- Geurts van Kessel, Ad
- van Krieken, J Han J M
- Kuiper, Roland P
- Hoogerbrugge, Nicoline
Producer: 20150807
In:
Nature genetics vol. 47
Availability: No items available.
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3430.
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3431.
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3432.
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A unique de novo gain-of-function variant in [electronic resource] by
- Zech, Michael
- Lam, Daniel D
- Weber, Sandrina
- Berutti, Riccardo
- Poláková, Kamila
- Havránková, Petra
- Fečíková, Anna
- Strom, Tim M
- Růžička, Evžen
- Jech, Robert
- Winkelmann, Juliane
Producer: 20190917
In:
Cold Spring Harbor molecular case studies vol. 4
Availability: No items available.
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3433.
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Decreased mRNA and protein stability of W1282X limits response to modulator therapy. [electronic resource] by
- Aksit, M A
- Bowling, A D
- Evans, T A
- Joynt, A T
- Osorio, D
- Patel, S
- West, N
- Merlo, C
- Sosnay, P R
- Cutting, G R
- Sharma, N
Producer: 20201013
In:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 18
Availability: No items available.
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3434.
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RNA Helicases from the DEA(D/H)-Box Family Contribute to Plant NMD Efficiency. [electronic resource] by
- Sulkowska, Aleksandra
- Auber, Andor
- Sikorski, Pawel J
- Silhavy, Dï Niel
- Auth, Mariann
- Sitkiewicz, Ewa
- Jean, Viviane
- Merret, Rï My
- Bousquet-Antonelli, Cï Cile
- Kufel, Joanna
Producer: 20200928
In:
Plant & cell physiology vol. 61
Availability: No items available.
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3435.
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3436.
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Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. [electronic resource] by
- Chen, Chun-An
- Pal, Rituraj
- Yin, Jiani
- Tao, Huifang
- Amawi, Abdallah
- Sabo, Aniko
- Bainbridge, Matthew N
- Gibbs, Richard A
- Zoghbi, Huda Y
- Schaaf, Christian P
Producer: 20210603
In:
Human molecular genetics vol. 29
Availability: No items available.
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