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1
Genotype-phenotype relationships of truncating mutations, p..:
Felzen, Antonia
;
van Wessel, Daan B E
;
Gonzales, Emmanuel
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.jhepr.2022.100626. , 2023
Link:
https://archive-ouverte.unige.ch/unige:173863
RT Journal T1
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
UL https://suche.suub.uni-bremen.de/peid=base-ftunivgeneve:oai:unige.ch:aou:unige:173863&Exemplar=1&LAN=DE A1 Felzen, Antonia A1 van Wessel, Daan B E A1 Gonzales, Emmanuel A1 Thompson, Richard J A1 Jankowska, Irena A1 Shneider, Benjamin L A1 Sokal, Etienne A1 Grammatikopoulos, Tassos A1 Kadaristiana, Agustina A1 Jacquemin, Emmanuel A1 Spraul, Anne A1 Lipiński, Patryk A1 Czubkowski, Piotr A1 Rock, Nathalie A1 Shagrani, Mohammad A1 Broering, Dieter A1 Nicastro, Emanuele A1 Kelly, Deirdre A1 Nebbia, Gabriella A1 Arnell, Henrik A1 Fischler, Björn A1 Hulscher, Jan B F A1 Serranti, Daniele A1 Arikan, Cigdem A1 Polat, Esra A1 Debray, Dominique A1 Lacaille, Florence A1 Goncalves, Cristina A1 Hierro, Loreto A1 Muñoz Bartolo, Gema A1 Mozer-Glassberg, Yael A1 Azaz, Amer A1 Brecelj, Jernej A1 Dezsőfi, Antal A1 Calvo, Pier Luigi A1 Grabhorn, Enke A1 Hartleif, Steffen A1 van der Woerd, Wendy J A1 Kamath, Binita M A1 Wang, Jian-She A1 Li, Liting A1 Durmaz, Özlem A1 Kerkar, Nanda A1 Jørgensen, Marianne Hørby A1 Fischer, Ryan A1 Jimenez-Rivera, Carolina A1 Alam, Seema A1 Cananzi, Mara A1 Laverdure, Noemie A1 Ferreira, Cristina Targa A1 Guerrero, Felipe Ordoñez A1 Wang, Heng A1 Sency, Valerie A1 Kim, Kyung Mo A1 Chen, Huey-Ling A1 de Carvalho, Elisa A1 Fabre, Alexandre A1 Bernabeu, Jesus Quintero A1 Zellos, Aglaia A1 Alonso, Estella M A1 Sokol, Ronald J A1 Suchy, Frederick J A1 Loomes, Kathleen M A1 McKiernan, Patrick J A1 Rosenthal, Philip A1 Turmelle, Yumirle A1 Horslen, Simon A1 Schwarz, Kathleen A1 Bezerra, Jorge A A1 Wang, Kasper A1 Hansen, Bettina E A1 Verkade, Henkjan J A1 NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium YR 2023 K1 info:eu-repo/classification/ddc/618 K1 ABCB11 K1 ATP-binding cassette K1 sub-family B member 11 K1 ALT K1 alanine aminotransferase K1 AST K1 aspartate aminotransferase K1 BSEP K1 bile salt export pump K1 ChiLDReN K1 Childhood Liver Disease Research Network K1 GGT K1 gamma-glutamyltransferase K1 HCC K1 hepatocellular carcinoma K1 LTx K1 liver transplantation K1 NAPPED K1 NAtural course and Prognosis of PFIC and Effect of biliary Diversion K1 NLS K1 native liver survival K1 PFIC2 K1 progressive familial intrahepatic cholestasis type 2 K1 PPTM K1 predicted protein truncating mutation K1 REDCap K1 Research Electronic Data Capture K1 TSB K1 total serum bilirubin K1 UDCA K1 ursodeoxycholic acid K1 Compound heterozygosity K1 Genotype K1 Interruption of the enterohepatic circulation K1 Phenotype K1 SBAs K1 serum bile acids K1 SiEHC K1 surgical interruption of the enterohepatic circulation JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.jhepr.2022.100626 LK http://dx.doi.org/https://archive-ouverte.unige.ch/unige:173863 DO https://archive-ouverte.unige.ch/unige:173863 SF ELIB - SuUB Bremen
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