Results 131 to 140 of about 13,537 (162)

A structural basis for Lowe syndrome caused by mutations in the Rab‐binding domain of OCRL1

EMBO Journal, 2011
Wulf Blankenfeldt, Roger Goody, Kai Sven Erdmann   +2 more
exaly  

Lowe-Syndrom

Monatsschrift Kinderheilkunde, 1998
T. Menke, S. M. Gu, B. Schlüter, E. Kuwertz-Bröking, A. Gal, W. Andler   +5 more
openaire   +1 more source

Dent-2 Disease: A Mild Variant of Lowe Syndrome

Journal of Pediatrics, 2009
Detlef Bockenhauer, Hae Il Cheong, Robert Unwin   +2 more
exaly  

The role of the Lowe syndrome protein OCRL in the endocytic pathway

Biological Chemistry, 2015
Kai Sven Erdmann
exaly  

Oculocerebrorenal syndrome. (Lowe syndrome).

American journal of diseases of children (1960), 1973
S S, Gellis, M, Feingold
openaire   +1 more source

[Lowe's syndrome].

Ceskoslovenska pediatrie, 1998
M, ORT, Z, REZNIK, A, BOHACOVA
openaire   +3 more sources

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

Human Mutation, 2011
Genevieve Baujat, Véronique Satre, John Rendu   +2 more
exaly  

Lowe Syndrome

2012
openaire   +2 more sources

Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease

American Journal of Physiology - Cell Physiology, 2012
Guojin Wu, Ji-Bin Peng, Tao Na
exaly  

Lowe Syndrome

2005
openaire   +1 more source