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Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. [electronic resource] by
- Natsuga, Ken
- Nishie, Wataru
- Akiyama, Masashi
- Nakamura, Hideki
- Shinkuma, Satoru
- McMillan, James R
- Nagasaki, Akari
- Has, Cristina
- Ouchi, Takeshi
- Ishiko, Akira
- Hirako, Yoshiaki
- Owaribe, Katsushi
- Sawamura, Daisuke
- Bruckner-Tuderman, Leena
- Shimizu, Hiroshi
Producer: 20101029
In:
Human mutation vol. 31
Availability: No items available.
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225.
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A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. [electronic resource] by
- Groves, Richard W
- Liu, Lu
- Dopping-Hepenstal, Patricia J
- Markus, Hugh S
- Lovell, Patricia A
- Ozoemena, Linda
- Lai-Cheong, Joey E
- Gawler, Jeffrey
- Owaribe, Katsushi
- Hashimoto, Takashi
- Mellerio, Jemima E
- Mee, John B
- McGrath, John A
Producer: 20100615
In:
The Journal of investigative dermatology vol. 130
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226.
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An Organoruthenium Anticancer Agent Shows Unexpected Target Selectivity For Plectin. [electronic resource] by
- Meier, Samuel M
- Kreutz, Dominique
- Winter, Lilli
- Klose, Matthias H M
- Cseh, Klaudia
- Weiss, Tamara
- Bileck, Andrea
- Alte, Beatrix
- Mader, Johanna C
- Jana, Samir
- Chatterjee, Annesha
- Bhattacharyya, Arindam
- Hejl, Michaela
- Jakupec, Michael A
- Heffeter, Petra
- Berger, Walter
- Hartinger, Christian G
- Keppler, Bernhard K
- Wiche, Gerhard
- Gerner, Christopher
Producer: 20190403
In:
Angewandte Chemie (International ed. in English) vol. 56
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227.
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Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants. [electronic resource] by
- Kariminejad, Ariana
- Vahidnezhad, Hassan
- Ghaderi-Sohi, Siavash
- Ghannadan, Ali R
- Youssefian, Leila
- Parsimehr, Elham
- Faraji Zonooz, Mehrshid
- Kariminejad, Mohammad H
- Uitto, Jouni
- Najmabadi, Hossein
- Hennekam, Raoul C
Producer: 20200728
In:
American journal of medical genetics. Part A vol. 179
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228.
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Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations. [electronic resource] by
- Valari, Manthoula
- Theodoraki, Martha
- Loukas, Ierotheos
- Gkantseva-Patsoura, Sylvia
- Karavana, Georgia
- Falaina, Vasiliki
- Lykopoulou, Lilia
- Pons, Roser
- Athanasiou, Ioannis
- Wertheim-Tysarowska, Katarzyna
- Kanaka-Gantenbein, Christina
- Kiritsi, Dimitra
Producer: 20200520
In:
Acta dermato-venereologica vol. 99
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Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE. [electronic resource] by
- Maselli, R A
- Arredondo, J
- Cagney, O
- Mozaffar, T
- Skinner, S
- Yousif, S
- Davis, R R
- Gregg, J P
- Sivak, M
- Konia, T H
- Thomas, K
- Wollmann, R L
Producer: 20120615
In:
Clinical genetics vol. 80
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