Journal Article (1249)
1201.
Journal Article
137, pp. 2723 - 2731 (2010)
Med12 is essential for early mouse development and for canonical Wnt and Wnt/PCP signaling. Development 1202.
Journal Article
7, pp. 242 - 243 (2010)
Embryology meets cancer research. Public Service Review: Science and Technology 1203.
Journal Article
5 (3), e9522 (2010)
A quantitative study of the Hog1 MAPK response to fluctuating osmotic stress in Saccharomyces cerevisiae. A Quantitative Study of the Hog1 MAPK Response to Fluctuating Osmotic Stress in Saccharomyces cerevisiae 1204.
Journal Article
42 (11), pp. 1021 - 6 (2010)
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 1205.
Journal Article
88 (8), pp. 626 - 632 (2010)
Mosaic Expression of Med12 in Female Mice Leads to Exencephaly, Spina Bifida, and Craniorachischisis. Birth Defects Research Part A: Clinical and Molecular Teratology 1206.
Journal Article
19 (3), pp. 157 - 60 (2010)
Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations. Clin Dysmorphol 1207.
Journal Article
18 (3), pp. 291 - 5 (2010)
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. Eur J Hum Genet 1208.
Journal Article
30 (5), pp. 673 - 683 (2009)
Sequential polarization and imprinting of type 1 T-helper lymphocytes by interferon-γ and interleukin-12. Immunity 1209.
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 1210.
Journal Article
7 (10), pp. 4566 - 4576 (2008)
Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. Journal of Proteome Research 1211.
Journal Article
14 (8), pp. 2270 - 2275 (2008)
Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma. Clinical Cancer Research 1212.
Journal Article
26, pp. 305 - 312 (2008)
Minimum Information Specification For In Situ Hybridization and Immunohistochemistry Experiments (MISFISHIE). Nature biotechnology 1213.
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 1214.
Journal Article
6 (5), pp. 268 - 269 (2006)
Biochemical consequences of a pathogenic A3243G mtDNA mutation. Mitochondrion 1215.
Journal Article
27 (19), pp. 3864 - 2868 (2006)
Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups. Electrophoresis 1216.
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 1217.
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. 1218.
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 1219.
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 1220.
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