Results
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4941.
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The minor gentamicin complex component, X2, is a potent premature stop codon readthrough molecule with therapeutic potential. [electronic resource] by
- Friesen, Westley J
- Johnson, Briana
- Sierra, Jairo
- Zhuo, Jin
- Vazirani, Priya
- Xue, Xiaojiao
- Tomizawa, Yuki
- Baiazitov, Ramil
- Morrill, Christie
- Ren, Hongyu
- Babu, Suresh
- Moon, Young-Choon
- Branstrom, Art
- Mollin, Anna
- Hedrick, Jean
- Sheedy, Josephine
- Elfring, Gary
- Weetall, Marla
- Colacino, Joseph M
- Welch, Ellen M
- Peltz, Stuart W
Producer: 20190409
In:
PloS one vol. 13
Availability: No items available.
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4942.
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4943.
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4944.
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Mutations in [electronic resource] by
- Iqbal, Hira
- Khan, Shahid Y
- Zhou, Lin
- Irum, Bushra
- Ali, Muhammad
- Ahmed, Mariya R
- Shahzad, Mohsin
- Ali, Muhammad Hassaan
- Naeem, Muhammad Asif
- Riazuddin, Sheikh
- Hejtmancik, J Fielding
- Riazuddin, S Amer
Producer: 20210510
In:
Molecular vision vol. 26
Availability: No items available.
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4945.
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4946.
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4947.
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4948.
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4949.
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4950.
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4951.
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4952.
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Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing. [electronic resource] by
- Winter, Jennifer
- Lehmann, Tanja
- Krauss, Sybille
- Trockenbacher, Alexander
- Kijas, Zofia
- Foerster, John
- Suckow, Vanessa
- Yaspo, Marie-Laure
- Kulozik, Andreas
- Kalscheuer, Vera
- Schneider, Rainer
- Schweiger, Susann
Producer: 20040629
In:
Human genetics vol. 114
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4953.
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4954.
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4955.
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4956.
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Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. [electronic resource] by
- Suls, Arvid
- Claeys, Kristl G
- Goossens, Dirk
- Harding, Boris
- Van Luijk, Rob
- Scheers, Stefaan
- Deprez, Liesbet
- Audenaert, Dominique
- Van Dyck, Tine
- Beeckmans, Sabine
- Smouts, Iris
- Ceulemans, Berten
- Lagae, Lieven
- Buyse, Gunnar
- Barisic, Nina
- Misson, Jean-Paul
- Wauters, Jan
- Del-Favero, Jurgen
- De Jonghe, Peter
- Claes, Lieve R F
Producer: 20061024
In:
Human mutation vol. 27
Availability: No items available.
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4957.
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4958.
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Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis. [electronic resource] by
- Rudd, E
- Bryceson, Y T
- Zheng, C
- Edner, J
- Wood, S M
- Ramme, K
- Gavhed, S
- Gürgey, A
- Hellebostad, M
- Bechensteen, A G
- Ljunggren, H-G
- Fadeel, B
- Nordenskjöld, M
- Henter, J-I
Producer: 20080403
In:
Journal of medical genetics vol. 45
Availability: No items available.
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4959.
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Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia. [electronic resource] by
- Maksimova, N
- Hara, K
- Miyashia, A
- Nikolaeva, I
- Shiga, A
- Nogovicina, A
- Sukhomyasova, A
- Argunov, V
- Shvedova, A
- Ikeuchi, T
- Nishizawa, M
- Kuwano, R
- Onodera, O
Producer: 20080201
In:
Journal of medical genetics vol. 44
Availability: No items available.
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4960.
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