[PDF][PDF] Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
VM Kalscheuer, J Tao, A Donnelly, G Hollway… - The American Journal of …, 2003 - cell.com
X-linked West syndrome, also called" X-linked infantile spasms"(ISSX), is characterized by
early-onset generalized seizures, hypsarrhythmia, and mental retardation. Recently, we …
early-onset generalized seizures, hypsarrhythmia, and mental retardation. Recently, we …
[HTML][HTML] Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
RS Møller, S Kübart, M Hoeltzenbein, B Heye… - The American Journal of …, 2008 - cell.com
We have identified and characterized two unrelated patients with prenatal onset of
microcephaly, intrauterine growth retardation, feeding problems, developmental delay, and …
microcephaly, intrauterine growth retardation, feeding problems, developmental delay, and …
[HTML][HTML] Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome
We have identified a girl with characteristic features of Rett syndrome (RTT) who carries a de
novo balanced translocation involving chromosomes 1 and 7. Both breakpoints were …
novo balanced translocation involving chromosomes 1 and 7. Both breakpoints were …
Breakpoints around the HOXD cluster result in various limb malformations
B Dlugaszewska, A Silahtaroglu, C Menzel… - Journal of medical …, 2006 - jmg.bmj.com
Background: Characterisation of disease associated balanced chromosome
rearrangements is a promising starting point in the search for candidate genes and …
rearrangements is a promising starting point in the search for candidate genes and …
Use of Bacillus subtilis as biocontrol agent. I. Activities and characterization of Bacillus subtilis strains/Anwendung von Bacillus subtilis als Mittel für den biologischen …
B Krebs, B Höding, S Kübart, MA Workie… - … /Journal of Plant …, 1998 - JSTOR
Selected Bacillus strains, isolated from infested soils and biochemically characterized by
Bergey's method as Bacillus subtilis, were investigated with respect to their antibacterial …
Bergey's method as Bacillus subtilis, were investigated with respect to their antibacterial …
[PDF][PDF] Corinna Menzel, 3 Reinhard Ullmann, 3 Niels Tommerup, Hans-Hilger Ropers, 3 Zeynep Tümer,* and Vera M. Kalscheuer3
RS Møller, S Kübart, M Hoeltzenbein… - The American Journal …, 2008 - academia.edu
We have identified and characterized two unrelated patients with prenatal onset of
microcephaly, intrauterine growth retardation, feeding problems, developmental delay, and …
microcephaly, intrauterine growth retardation, feeding problems, developmental delay, and …