X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations
Pauws, E, Peskett, E, Boissin, C, Hoshino, A, Mengrelis, K, Carta, E, Abruzzo, MA, Lees, M, Moore, GE, Erickson, RP, Stanier, P
Published in Clinical genetics (01.04.2013)
Published in Clinical genetics (01.04.2013)
Get full text
Journal Article
Therapeutic application of norursodeoxycholic acid in normothermic machine perfusion reduces perfusate apoptosis markers in livers rejected for transplantation
Rauter, L., Kollmann, D., Dingfelder, J., Kacar, S., Pereyra, D., Riha, M., Becker, N., Saffarian, T., Mengrelis, K., Wahrmann, M., Salat, A., Silberhumer, G., Soliman, T., Berlakovich, G., Györi, G.
Published in HPB (Oxford, England) (2024)
Published in HPB (Oxford, England) (2024)
Get full text
Journal Article
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
Thomas, Anna C., Williams, Hywel, Setó-Salvia, Núria, Bacchelli, Chiara, Jenkins, Dagan, O’Sullivan, Mary, Mengrelis, Konstantinos, Ishida, Miho, Ocaka, Louise, Chanudet, Estelle, James, Chela, Lescai, Francesco, Anderson, Glenn, Morrogh, Deborah, Ryten, Mina, Duncan, Andrew J., Pai, Yun Jin, Saraiva, Jorge M., Ramos, Fabiana, Farren, Bernadette, Saunders, Dawn, Vernay, Bertrand, Gissen, Paul, Straatmaan-Iwanowska, Anna, Baas, Frank, Wood, Nicholas W., Hersheson, Joshua, Houlden, Henry, Hurst, Jane, Scott, Richard, Bitner-Glindzicz, Maria, Moore, Gudrun E., Sousa, Sérgio B., Stanier, Philip
Published in American journal of human genetics (06.11.2014)
Published in American journal of human genetics (06.11.2014)
Get full text
Journal Article