Search Results

Hepatic phenotype in NBAS-associated disease: clinical course, prognostic factors and outcome in 230 patients by Peters, Bianca (Author) , Schlieben, Lea Dewi (Author) , Brennenstuhl, Heiko (Author) , Arikan, Cigdem (Author) , Bedoyan, Sarah M. (Author) , Bulut, Fatma Derya (Author) , Crushell, Ellen (Author) , Dionisi-Vici, Carlo (Author) , Drab, Ada (Author) , Fichtner, Alexander (Author) , Garcia, Aixa Gonzalez (Author) , Fry, Deanna (Author) , Garbade, Sven (Author) , Hammann, Nicole Irene (Author) , Hadzic, Nedim (Author) , Hegarty, Robert (Author) , Jørgensen, Marianne Hørby (Author) , Laaß, Martin (Author) , Lainka, Elke (Author) , Leghlam, Lina (Author) , Lurz, Eberhard (Author) , Mungan, Halise Neslihan Önenli (Author) , Pietrobattista, Andrea (Author) , Polo, Begona (Author) , Socha, Piotr (Author) , Squires, James E. (Author) , Sun, Tian (Author) , Vogel, Georg F. (Author) , Prokisch, Holger (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Staufner, Christian (Author) , Lenz, Dominic (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency by Peters, Bianca (Author) , Dattner, Tal (Author) , Schlieben, Lea D. (Author) , Sun, Tian (Author) , Staufner, Christian (Author) , Lenz, Dominic (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

RINT1 bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities by Cousin, Margot (Author) , Conboy, Erin (Author) , Wang, Jian-She (Author) , Lenz, Dominic (Author) , Schwab, Tanya L. (Author) , Williams, Monique (Author) , Abraham, Roshini S. (Author) , Barnett, Sarah (Author) , El-Youssef, Mounif (Author) , Graham, Rondell P. (Author) , Gutierrez Sanchez, Luz Helena (Author) , Hasadsri, Linda (Author) , Hoffmann, Georg F. (Author) , Hull, Nathan C. (Author) , Kopajtich, Robert (Author) , Kovacs-Nagy, Reka (Author) , Li, Jia-qi (Author) , Marx-Berger, Daniela (Author) , McLin, Valérie (Author) , McNiven, Mark A. (Author) , Mounajjed, Taofic (Author) , Prokisch, Holger (Author) , Rymen, Daisy (Author) , Schulze, Ryan J. (Author) , Staufner, Christian (Author) , Yang, Ye (Author) , Clark, Karl J. (Author) , Lanpher, Brendan C. (Author) , Klee, Eric W. (Author) ,

• Verlag, Pay-per-use, Volltext
• Verlag, Pay-per-use, Volltext