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收藏Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis
Hotz, A.; Fagerberg, C.; Vahlquist, A.; Bygum, A.; Torma, H.; Rauschendorf, M-A; Zhang, H.; Heinz, L.; Bourrat, E.; Hausser, I.; Vestergaard, V.; Dragomir, A.; Zimmer, A. D.; Fischer, J.
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收藏Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26
Gudmundsson, Sanna; Wilbe, Maria; Ekvall, Sara; Ameur, Adam; Cahill, Nicola; Alexandrov, Ludmil B.; Virtanen, Marie; Pigg, Maritta Hellstrom; Vahlquist, Anders; Torma, Hans; Bondeson, Marie-Louise
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收藏A CYP26B1 Polymorphism Enhances Retinoic Acid Catabolism and May Aggravate Atherosclerosis
Krivospitskaya, Olesya; Elmabsout, Ali Ateia; Sundman, Eva; Soderstrom, Leif A.; Ovchinnikova, Olga; Gidlof, Andreas C.; Scherbak, Nikolai; Norata, Giuseppe Danilo; Samnegard, Ann; Torma, Hans; Abdel-Halim, Samy M.; Jansson, Jan-Hakan; Eriksson, Per; Sirsjo, Allan; Olofsson, Peder S.
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收藏A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis (vol 86, pg 596, 2010)
Dahlqvist, Johanna; Klar, Joakim; Tiwari, Neha; Schuster, Jens; Torma, Hans; Badhai, Jitendra; Pujol, Ramon; van Steensel, Maurice A. M.; Brinkhuizen, Tjinta; Gijezen, Lieke; Chaves, Antonio; Tadini, Gianluca; Vahlquist, Anders; Dahl, Niklas
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