Loss function and Missense mutation are the main areas of his Phenotype studies. Markus Schuelke connects Missense mutation with Phenotype in his research. His study deals with a combination of Mutation and Mutant. Markus Schuelke merges many fields, such as Mutant and Mutation, in his writings. Markus Schuelke incorporates Gene and Protein subunit in his research. In his work, he performs multidisciplinary research in Protein subunit and Gene. In his research, he performs multidisciplinary study on Genetics and Cancer research. He undertakes interdisciplinary study in the fields of Cancer research and Genetics through his research. His study connects Disease and Internal medicine.
His study deals with a combination of Gene and Frameshift mutation. He connects Genetics with Cancer research in his study. Markus Schuelke combines Cancer research and Genetics in his studies. His work on Internal medicine is being expanded to include thematically relevant topics such as Muscle atrophy. His Pathology study frequently involves adjacent topics like Sural nerve. His work blends Endocrinology and Physiology studies together. Markus Schuelke integrates several fields in his works, including Physiology and Endocrinology. Markus Schuelke connects Mutation with Mutant in his research. He combines Mutant and Mutation in his research.
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An economic method for the fluorescent labeling of PCR fragments
Nature Biotechnology (2000)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz;David Neil Cooper;Markus Schuelke;Dominik Seelow.
Nature Methods (2014)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz;Christian Rödelsperger;Markus Schuelke;Dominik Seelow.
Nature Methods (2010)
Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
Markus Schuelke;Kathryn R Wagner;Leslie E Stolz;Christoph Hübner.
The New England Journal of Medicine (2004)
Lack of myostatin results in excessive muscle growth but impaired force generation
Helge Amthor;Raymond Macharia;Roberto Navarrete;Markus Schuelke.
Proceedings of the National Academy of Sciences of the United States of America (2007)
Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations
Luis Carlos López;Markus Schuelke;Catarina M. Quinzii;Tomotake Kanki.
American Journal of Human Genetics (2006)
HomozygosityMapper--an interactive approach to homozygosity mapping.
Dominik Seelow;Markus Schuelke;Friedhelm Hildebrandt;Peter Nürnberg.
Nucleic Acids Research (2009)
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Katja Grohmann;Markus Schuelke;Alexander Diers;Katrin Hoffmann.
Nature Genetics (2001)
The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome
Jan Loeffen;Jan Smeitink;Ralf Triepels;Roel Smeets.
American Journal of Human Genetics (1998)
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
M Schuelke;J Smeitink;E Mariman;J Loeffen.
Nature Genetics (1999)
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