Journal Article (940)
901.
Journal Article
3 (1-4), pp. 41 - 9 (2009)
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J 902.
Journal Article
7 (10), pp. 4566 - 4576 (2008)
Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. Journal of Proteome Research 903.
Journal Article
14 (8), pp. 2270 - 2275 (2008)
Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma. Clinical Cancer Research 904.
Journal Article
26, pp. 305 - 312 (2008)
Minimum Information Specification For In Situ Hybridization and Immunohistochemistry Experiments (MISFISHIE). Nature biotechnology 905.
Journal Article
146A (19), pp. 2501 - 11 (2008)
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A 906.
Journal Article
6 (5), pp. 268 - 269 (2006)
Biochemical consequences of a pathogenic A3243G mtDNA mutation. Mitochondrion 907.
Journal Article
27 (19), pp. 3864 - 2868 (2006)
Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups. Electrophoresis 908.
Journal Article
10 (3), pp. 355 - 366 (2006)
Oscillations of the Snail Genes in the Presomitic Mesoderm Coordinate Segmental Patterning and Morphogenesis in Vertebrate Somitogenesis. Developmental Cell 909.
Journal Article
20 (2), pp. 362 - 363 (2006)
Platelet transfusion can mimic somatic mtDNA mutations. Leukemia: the Journal of Normal and Malignant Hemopoiese ; Official Journal of the Leukemia Research Fund U.K. 910.
Journal Article
94 (2), pp. 268 - 274 (2006)
Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism. British Journal of Cancer 911.
Journal Article
49 (3), pp. 225 - 34 (2006)
First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization. Eur J Med Genet 912.
Journal Article
14 (12), pp. 1317 - 20 (2006)
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3. Eur J Hum Genet 913.
Journal Article
5 (4), pp. 282 - 296 (2005)
Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations. Mitochondrion 914.
Journal Article
579 (5), pp. 1101 - 1108 (2005)
In silico identification of the key components and steps in IFN-γ induced JAK-STAT signaling pathway. FEBS Letters 915.
Journal Article
132A (3), pp. 324 - 8 (2005)
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. Am J Med Genet A 916.
Journal Article
135 (3), pp. 339 - 41 (2005)
Eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome. Am J Med Genet A 917.
Journal Article
25 (6), pp. 1005 - 1010 (2004)
Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma. Carcinogenesis 918.
Journal Article
105 (3), pp. 245 - 251 (2003)
Severe depletion of mitochondrial DNA in spinal muscular atrophy. Acta Neuropathologica 919.
Journal Article
77 (1-2), pp. 8 - 17 (2001)
Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1. Genomics 920.
Journal Article
9 (12), pp. 910 - 6 (2001)
Low incidence of UPD in spontaneous abortions beyond the 5th gestational week. Eur J Hum Genet