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9 Records found.
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1.
Baumann, M.* et al.: MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. Clin. Genet. 95, 182-186 (2018)
2.
Milev, M.P.* et al.: Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. J. Med. Genet. 55, 753-764 (2018)
3.
Brea-Calvo, G.* et al.: COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am. J. Hum. Genet. 96, 309-317 (2015)
4.
Fauth, C. et al.: Micro-array analysis decipher exceptional complex familial chromosomal rearrangement. Hum. Genet. 119, 145-153 (2006)
5.
Bolzer, A.* et al.: Three-dimensional maps of all chromosomes in human male fibroblast nuclei and prometaphase rosetts. PLoS Biol. 3, 826-842:e157 (2005)
6.
Fauth, C. ; O'Hare, M.J.* ; Lederer, G.* ; Jat, P.S.* & Speicher, M.R.: Order of genetic events is critical determinant of aberrations in chromosome count and structure. Genes Chromosomes Cancer 40, 298-306 (2004)
7.
Rost, I.* et al.: Tetrasomy 21pter-q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation. J. Med. Genet. 41, 1-7 (2004)
8.
Kraus, J. et al.: A familiy unbalanced subtelomeric translocation resulting in monosomy 6q27-qter. J. Med. Genet. 40, 1-5 (2003)
9.
Maierhofer, C. ; Jentsch, I. ; Lederer, G. ; Fauth, C. & Speicher, M.R.: Multicolor FISH in two and three dimensions for clastogenic analyses. Mutagen. 17, 523-527 (2002)