PuSH - Publication Server of Helmholtz Zentrum München

11 Records found.
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1.
Horn, D.* et al.: Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum. Mutat. 31, E1851-E1860 (2010)
2.
Hempel, M. et al.: Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization. Am. J. Med. Genet. A 149A, 2106-2112 (2009)
3.
Stogmann, E.* et al.: A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. Neurogenetics 10, 73-77 (2009)
4.
Koolen, D.A.* et al.: Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J. Med. Genet. 45, 710-720 (2008)
5.
Wagenstaller, J.: Kopplungsanalysen und Bestimmung von Kopienzahlvariationen mit Oligonukleotid-Mikroarrays. München, Technische Universität, Fakultät Wissenschaftszentrum Weihenstephan, Diss., 2008, 129 S.
6.
Zirn, B.* et al.: Polyneuropathy, Scoliosis, Tall Stature, and Oligodontia Represent Novel Features of the interstitial 6p Deletion Phenotype. Am. J. Med. Genet. A 146A, 2960-2965 (2008)
7.
Asmus, F.* et al.: Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. Brain 130, 2736-2745 (2007)
8.
Wagenstaller, J. et al.: Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am. J. Hum. Genet. 81, 768-779 (2007)
9.
Kalay, E.* et al.: Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum. Mutat. 27, 633-639 (2006)
10.
Lorenz-Depiereux, B. et al.: DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat. Genet. 38, 1248-1250 (2006)
11.
Lorenz-Depiereux, B. et al.: Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am. J. Hum. Genet. 78, 193-201 (2006)