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American Journal of Human Genetics|March 4, 2008
Human RFT1 deficiency leads to a disorder of N-linked glycosylationMicha A Haeuptle, François M Pujol, Christine Neupert, et al.American Journal of Medical Genetics. Part A|June 15, 2011
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndromeNicole Muschol, Sandra Pohl, Ann Meyer, et al.Human Mutation|November 21, 2002
Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neuronsPiret Michelson, Christine Hartwig, Melitta Schachner, et al.Hearing Research|February 5, 2004
Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6Hanno Bolz, Götz Schade, Stefanie Ehmer, et al.Pediatric Nephrology (Berlin, Germany)|February 13, 2007
L1CAM mutation in a boy with hydrocephalus and duplex kidneysMax Christoph Liebau, Andreas Gal, Andrea Superti-Furga, et al.Journal of Pediatric Rehabilitation Medicine|July 28, 2011
Evaluation of disease severity in mucopolysaccharidosesMichael Beck, Joseph Muenzer, Maurizio ScarpaOrphanet Journal of Rare Diseases|September 30, 2015
Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatmentChristoph Kampmann, Amandine Perrin, Michael BeckEndocrinology, Diabetes & Metabolism Case Reports|September 20, 2017
A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenitaJudith Gerards, Michael M Ritter, Elke Kaminsky, et al.The Biochemical Journal|September 15, 2005
The forkhead transcription factor Foxi1 directly activates the AE4 promoterIngo Kurth, Moritz Hentschke, Suna Hentschke, et al.FEBS Letters|May 24, 2006
Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitroChristine Hartwig, Andreas Gal, Rene Santer, et al.Pageof 31