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European Journal of Medical Genetics|December 13, 2012
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivationRaul E Piña-Aguilar, Gerardo R Zaragoza-Arévalo, Isabella Rau, et al.
Oncotarget|September 30, 2015
EGFRvIII does not affect radiosensitivity with or without gefitinib treatment in glioblastoma cellsNina Struve, Matthias Riedel, Alexander Schulte, et al.
American Journal of Human Genetics|December 1, 2001
Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectivelyDebra A Thompson, Christina L McHenry, Yun Li, et al.
Neurogenetics|March 19, 2005
Novel mutations and repeated findings of mutations in familial Alzheimer diseaseUlrich Finckh, Christian Kuschel, Maria Anagnostouli, et al.
Neuroscience Letters|October 7, 2004
Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer diseaseClaudia Günther, Kirsten von Hadeln, Tomas Müller-Thomsen, et al.
Investigative Ophthalmology & Visual Science|April 28, 2004
MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cellsChristina L McHenry, Yuhui Liu, Wei Feng, et al.
Reproductive Biomedicine Online|February 16, 2006
First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type IDiana Tomi, Askan Schultze-Mosgau, Juliane Eckhold, et al.
Molecular and Cellular Biology|November 30, 2006
Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle functionIngo Kurth, Debra A Thompson, Klaus Rüther, et al.
Human Mutation|March 19, 2005
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry diseaseEllen Schäfer, Karin Baron, Urs Widmer, et al.
Nature Genetics|July 20, 2004
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophyAndreas R Janecke, Debra A Thompson, Gerd Utermann, et al.
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