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JIMD Reports|May 7, 2014
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosisPaulina Nieves Cobos, Cordula Steglich, René Santer, 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.
Endocrinology, 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.
Genomics|September 6, 2002
A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this regionIsabel Martinez-Garay, Sibylle Jablonka, Marketa Sutajova, et al.
Journal of Neurology|March 3, 2010
Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathyAnne-Katrin Guettsches, Alma Kuechler, Andreas Gal, et al.
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