Results
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4781.
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4782.
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Emergence and prevalence of non-H2S-producing Salmonella enterica serovar Senftenberg isolates belonging to novel sequence type 1751 in China. [electronic resource] by
- Yi, Shengjie
- Xie, Jing
- Liu, Nan
- Li, Peng
- Xu, Xuebin
- Li, Hao
- Sun, Jichao
- Wang, Jian
- Liang, Beibei
- Yang, Chaojie
- Wang, Xu
- Hao, Rongzhang
- Wang, Ligui
- Wu, Zhihao
- Zhang, Jianmin
- Wang, Yong
- Huang, Liuyu
- Sun, Yansong
- Klena, John D
- Meng, Jianghong
- Qiu, Shaofu
- Song, Hongbin
Producer: 20150213
In:
Journal of clinical microbiology vol. 52
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4783.
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The million mutation project: a new approach to genetics in Caenorhabditis elegans. [electronic resource] by
- Thompson, Owen
- Edgley, Mark
- Strasbourger, Pnina
- Flibotte, Stephane
- Ewing, Brent
- Adair, Ryan
- Au, Vinci
- Chaudhry, Iasha
- Fernando, Lisa
- Hutter, Harald
- Kieffer, Armelle
- Lau, Joanne
- Lee, Norris
- Miller, Angela
- Raymant, Greta
- Shen, Bin
- Shendure, Jay
- Taylor, Jon
- Turner, Emily H
- Hillier, LaDeana W
- Moerman, Donald G
- Waterston, Robert H
Producer: 20140407
In:
Genome research vol. 23
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4784.
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Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. [electronic resource] by
- Twigg, Stephen R F
- Forecki, Jennifer
- Goos, Jacqueline A C
- Richardson, Ivy C A
- Hoogeboom, A Jeannette M
- van den Ouweland, Ans M W
- Swagemakers, Sigrid M A
- Lequin, Maarten H
- Van Antwerp, Daniel
- McGowan, Simon J
- Westbury, Isabelle
- Miller, Kerry A
- Wall, Steven A
- van der Spek, Peter J
- Mathijssen, Irene M J
- Pauws, Erwin
- Merzdorf, Christa S
- Wilkie, Andrew O M
Producer: 20151208
In:
American journal of human genetics vol. 97
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4785.
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4786.
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Development and Function of Immune Cells in an Adolescent Patient With a Deficiency in the Interleukin-10 Receptor. [electronic resource] by
- Veenbergen, Sharon
- van Leeuwen, Marieke A
- Driessen, Gertjan J
- Kersseboom, Rogier
- de Ruiter, Lilian F
- Raatgeep, Rolien H C
- Lindenbergh-Kortleve, Dicky J
- Simons-Oosterhuis, Ytje
- Biermann, Katharina
- Halley, Dicky J J
- de Ridder, Lissy
- Escher, Johanna C
- Samsom, Janneke N
Producer: 20180321
In:
Journal of pediatric gastroenterology and nutrition vol. 65
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4787.
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Palmoplantar Keratoderma in Slurp2-Deficient Mice. [electronic resource] by
- Allan, Christopher M
- Procaccia, Shiri
- Tran, Deanna
- Tu, Yiping
- Barnes, Richard H
- Larsson, Mikael
- Allan, Bernard B
- Young, Lorraine C
- Hong, Cynthia
- Tontonoz, Peter
- Fong, Loren G
- Young, Stephen G
- Beigneux, Anne P
Producer: 20160609
In:
The Journal of investigative dermatology vol. 136
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4788.
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Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics. [electronic resource] by
- Sarkar, Hajrah
- Mitsios, Andreas
- Smart, Matthew
- Skinner, Jane
- Welch, Ailsa A
- Kalatzis, Vasiliki
- Coffey, Peter J
- Dubis, Adam M
- Webster, Andrew R
- Moosajee, Mariya
Producer: 20200206
In:
Human molecular genetics vol. 28
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4789.
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4790.
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Deficiency of PRKD2 triggers hyperinsulinemia and metabolic disorders. [electronic resource] by
- Xiao, Yao
- Wang, Can
- Chen, Jia-Yu
- Lu, Fujian
- Wang, Jue
- Hou, Ning
- Hu, Xiaomin
- Zeng, Fanxin
- Ma, Dongwei
- Sun, Xueting
- Ding, Yi
- Zhang, Yan
- Zheng, Wen
- Liu, Yuli
- Shang, Haibao
- Zhu, Wenzhen
- Han, Chensheng
- Zhang, Yulin
- Ouyang, Kunfu
- Chen, Liangyi
- Chen, Ju
- Xiao, Rui-Ping
- Li, Chuan-Yun
- Zhang, Xiuqin
Producer: 20181211
In:
Nature communications vol. 9
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4791.
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4792.
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4793.
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4794.
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Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome. [electronic resource] by
- Jeck, N
- Derst, C
- Wischmeyer, E
- Ott, H
- Weber, S
- Rudin, C
- Seyberth, H W
- Daut, J
- Karschin, A
- Konrad, M
Producer: 20010726
In:
Kidney international vol. 59
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4795.
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Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. [electronic resource] by
- Pulichino, Anne-Marie
- Vallette-Kasic, Sophie
- Couture, Catherine
- Gauthier, Yves
- Brue, Thierry
- David, Michel
- Malpuech, Georges
- Deal, Cheri
- Van Vliet, Guy
- De Vroede, Monique
- Riepe, Felix G
- Partsch, Carl-Joachim
- Sippell, Wolfgang G
- Berberoglu, Merih
- Atasay, Begüm
- Drouin, Jacques
Producer: 20030507
In:
Genes & development vol. 17
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4796.
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4797.
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Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. [electronic resource] by
- Giunti, L
- Pelagatti, S
- Lazzerini, V
- Guarducci, S
- Lapi, E
- Coviello, S
- Cecconi, A
- Ombroni, L
- Andreucci, E
- Sani, I
- Brusaferri, A
- Lasagni, A
- Ricotti, G
- Giometto, B
- Nicolao, P
- Gasparini, P
- Granatiero, M
- Uzielli, M L
Producer: 20020313
In:
Brain & development vol. 23 Suppl 1
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4798.
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4799.
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A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. [electronic resource] by
- Kamiya, Kazusaku
- Kaneda, Makoto
- Sugawara, Takashi
- Mazaki, Emi
- Okamura, Nami
- Montal, Mauricio
- Makita, Naomasa
- Tanaka, Masaki
- Fukushima, Katsuyuki
- Fujiwara, Tateki
- Inoue, Yushi
- Yamakawa, Kazuhiro
Producer: 20040528
In:
The Journal of neuroscience : the official journal of the Society for Neuroscience vol. 24
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4800.
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