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Neurogenetics|May 28, 2014
The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndromeSuna Lahut, David Vadasz, Candan Depboylu, et al.Plos One|January 10, 2013
Discovery, validation and characterization of Erbb4 and Nrg1 haplotypes using data from three genome-wide association studies of schizophreniaZeynep Sena Agim, Melda Esendal, Laurent Briollais, et al.Genome Research|September 3, 2011
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindredSuleyman Gulsuner, Ayse Begum Tekinay, Katja Doerschner, et al.Journal of Neurology|August 14, 2023
White matter abnormalities in 15 subjects with SPG76Abdulrahman Alkhalifa, Shihan Chen, Zehra Isik Hasiloglu, et al.Human Molecular Genetics|March 4, 2010
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humansSuzanne Lesage, Etienne Patin, Christel Condroyer, et al.Hemoglobin|August 7, 2009
An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET projectCarsten W Lederer, A Nazli Basak, Yesim Aydinok, et al.Human Genetics|July 19, 2006
Genetic analysis of candidate genes modifying the age-at-onset in Huntington's diseaseSilke Metzger, Peter Bauer, Jürgen Tomiuk, et al.Cell Reports|February 28, 2019
Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral SclerosisJohnathan Cooper-Knock, Tobias Moll, Tennore Ramesh, et al.Neurogenetics|December 22, 2005
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's diseaseSilke Metzger, Peter Bauer, Juergen Tomiuk, et al.Neurology|January 26, 2021
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 DiseaseAndreas Traschütz, Andrea Cortese, Selina Reich, et al.Pageof 3