نتائج البحث - Thomas Meitinger
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A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier حسب Anne Wöhlke, U. Philipp, Patricia Bock, Andreas Beineke, Peter Lichtner, Thomas Meitinger, O. Distl
منشور في 2011Artigo -
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Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22 حسب Astrid Golla, Annette Jansson, Juliane Ramser, Heide Hellebrand, R. Zahn, Thomas Meitinger, Bernd H. Belohradsky, Alfons Meindl
منشور في 2002Artigo -
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Genetic Variation in Soluble Epoxide Hydrolase ( <i>EPHX2</i> ) Is Associated With an Increased Risk of Ischemic Stroke in White Europeans حسب Andreas Gschwendtner, Stephan Ripke, Tobias Freilinger, Peter Lichtner, Bertram Müller‐Myhsok, H.‐Erich Wichmann, Thomas Meitinger, Martin Dichgans
منشور في 2008Carta -
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Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk حسب Andrea Rivera, Sheila Fisher, Lars G. Fritsche, Claudia N. Keilhauer, Peter Lichtner, Thomas Meitinger, Bernhard H. F. Weber
منشور في 2005Artigo -
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Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb حسب Muhammad Umair, Khadim Shah, Bader Alhaddad, Tobias B. Haack, Elisabeth Graf, Tim M. Strom, Thomas Meitinger, Wasim Ahmad
منشور في 2017Artigo -
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The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted حسب Monika Grabowski, Alexander Zimprich, Bettina Lorenz‐Depiereux, Vera M. Kalscheuer, Friedrich Asmus, Thomas Gasser, Thomas Meitinger, Tim M. Strom
منشور في 2003Artigo -
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The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity حسب Christian Johannes Gloeckner, Norbert Kinkl, Annette Schumacher, Ralf J. Braun, Eric O’Neill, Thomas Meitinger, Walter Kölch, Holger Prokisch, Marius Ueffing
منشور في 2005Artigo -
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Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9 حسب Katharina Danhauser, Diran Herebıan, Tobias B. Haack, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, Dirk Klee, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier
منشور في 2015Artigo -
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Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage حسب Sandra Jansen, Bernhard Aigner, Hubert Pausch, Michał Wysocki, Sebastian Eck, Anna Benet‐Pagès, Elisabeth Graf, Thomas Wieland, Tim M. Strom, Thomas Meitinger, Ruedi Fries
منشور في 2013Artigo -
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Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation حسب Janine Wagenstaller, Stephanie Spranger, Bettina Lorenz‐Depiereux, Bernd Kazmierczak, Michaela Nathrath, Dagmar Wahl, Babett Heye, Dieter Gläser, Volkmar Liebscher, Thomas Meitinger, Tim M. Strom
منشور في 2007Artigo -
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CLOCK Gene Variants Associate with Sleep Duration in Two Independent Populations حسب Karla V. Allebrandt, Maris Teder‐Laving, Mahmut Akyol, Irene Pichler, Bertram Müller-Myhsok, Peter P. Pramstaller, Martha Merrow, Thomas Meitinger, Andreas Metspalu, Till Roenneberg
منشور في 2010Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Genetics
Gene
Medicine
Internal medicine
Genotype
Single-nucleotide polymorphism
Genome-wide association study
Genetic association
Endocrinology
Population
Computational biology
Mutation
Disease
Environmental health
Allele
Bioinformatics
Phenotype
Locus (genetics)
Cardiology
Exome sequencing
Genome
Pathology
Biochemistry
Neuroscience
Odds ratio
Computer science
Gene expression
Evolutionary biology
Exome