Search Results - "Meitinger T"

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Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach.

Authors: Krenn, M. Tomschik, M. Rath, J. et al.

Source: European Journal of Neurology. Jan2020, Vol. 27 Issue 1, p51-61. 11p. 1 Diagram, 2 Charts.

Subjects: Neuromuscular diseases, Genetic testing, Nucleotide sequencing, Genetic disorders, Gene targeting

Exomdiagnostik verändert die Sicht auf Mitochondriopathien.

Alternate Title: Exome diagnostics are changing our view of mitochondrial diseases.

Authors: Prokisch, H. Oexle, K. Meitinger, T.

Source: Medizinische Genetik. Sep2012, Vol. 24 Issue 3, p183-186. 4p.

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P4.44 mitoNET – German network for mitochondrial disorders

Authors: Klopstock, T. Meitinger, T. Obermaier-Kusser, B.

Source: Neuromuscular Disorders. Oct2010, Vol. 20 Issue 9/10, p671-671. 1p.

Mitochondriale Erkrankungen.

Alternate Title: Mitochondrial diseases.

Authors: Klopstock, T. Abicht, A. Meitinger, T.

Source: Medizinische Genetik. Sep2012, Vol. 24 Issue 3, p160-161. 2p.

Report of the third international workshop on human chromosome 10 mapping and sequencing 1999.

Authors: Deloukas, P. French, L. Meitinger, T. et al.

Source: Cytogenetics & Cell Genetics. Jul2000, Vol. 90 Issue 1/2, p1-12. 12p.

Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET).

Alternate Title: The German Network for Mitochondrial Disorders (mitoNET).

Authors: Büchner, B. Gallenmüller, C. Lautenschläger, R. et al.

Source: Medizinische Genetik. Sep2012, Vol. 24 Issue 3, p193-199. 7p.

Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing.

Authors: Greif, P. A. Eck, S. H. Konstandin, N. P. et al.

Source: Leukemia (08876924). May2011, Vol. 25 Issue 5, p821-827. 7p. 1 Diagram, 2 Charts, 3 Graphs.

Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

Authors: Umair, M. Eckstein, G. Rudolph, G. et al.

Source: Clinical Genetics. Apr2018, Vol. 93 Issue 4, p913-918. 7p. 2 Diagrams, 1 Chart.

Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Authors: Braunisch, M. C. Gallwitz, H. Abicht, A. et al.

Source: Clinical Genetics. Feb2018, Vol. 93 Issue 2, p255-265. 12p. 1 Color Photograph, 1 Black and White Photograph, 1 Diagram, 3 Charts.

Late Failing Transcatheter Aortic Valve Implantation (TAVI) Prosthesis in 25 Patients: Single-Center Experience of Valve-in-valve and Surgical Redo Procedures.

Authors: Lahm, H. Jia, M. Dreßen, M. et al.

Source: Thoracic & Cardiovascular Surgeon, Supplement. 2018 Supplement1, Vol. 66, pS1-S110. 110p.

Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting.

Authors: Fox AA Collard CD Shernan SK et al.

Source: Anesthesiology. Apr2009, Vol. 110 Issue 4, p738-747. 10p.

Genomewide association analysis of coronary artery disease.

Authors: Samani NJ Erdmann J Hall AS et al.

Source: New England Journal of Medicine. 8/2/2007, Vol. 357 Issue 5, p443-453. 11p.

URL: 26095008

Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts

Authors: Bettecken, T. Rubie, C. Lichtner, P. et al.

Source: Molecular & Cellular Probes. Oct2002, Vol. 16 Issue 5, p379. 6p.

Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred – a possible new syndrome.

Authors: Schmidt, H Rudolph, G Hergersberg, M et al.

Source: Clinical Genetics. Feb2001, Vol. 59 Issue 2, p99-105. 7p.

Bezafibrate as treatment option in patients with mitochondrial complex I deficiency.

Authors: Freisinger, P. Haberberger, B. Strecker, V. et al.

Source: Mitochondrion. Nov2013, Vol. 13 Issue 6, p920-921. 2p.

P170 COMPARATIVE MAPPING OF LINKAGE AND ASSOCIATION SIGNALS IN MYOCARDIAL INFARCTION

Authors: Medack, A. Loley, C. Nahrstaedt, J. et al.

Source: Atherosclerosis (Supplements). Jun2010, Vol. 11 Issue 2, p51-52. 2p.