Stephanie Demuth

Stephanie Demuth

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Stephanie Demuth

Stephanie Demuth

Publications by authors named "Stephanie Demuth"

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Novel Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.

Mol Syndromol 2019 Jul 2;10(4):223-228. Epub 2019 Jul 2.

Center of Human Genetics, Jena University Hospital, Jena, Germany.

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http://dx.doi.org/10.1159/000501183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6738185PMC
July 2019

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

J Neurol Neurosurg Psychiatry 2012 Feb 29;83(2):174-8. Epub 2011 Oct 29.

Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1136/jnnp-2011-301258DOI Listing
February 2012

Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism.

J Clin Endocrinol Metab 2010 Aug 19;95(8):4031-6. Epub 2010 May 19.

University of Cambridge, Metabolic Research Laboratories, Institute of Metabolic Science, Department of Medicine, Level 4, Box 289, Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom.

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http://dx.doi.org/10.1210/jc.2010-0275DOI Listing
August 2010