PuSH - Publication Server of Helmholtz Zentrum München

5 Records found.
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1.
Leszinski, G.S.* ; Warncke, K.* ; Hoefele, J.* & Wagner, M.: A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome. Gene 663, 110-114 (2018)
2.
Westphal, D.S. ; Andres, S.* ; Makowski, C.* ; Meitinger, T. & Hoefele, J.*: MAP2 - A candidate gene for epilepsy, developmental delay and behavioral abnormalities in a patient with microdeletion 2q34. Front. Genet. 9:99 (2018)
3.
Westphal, D.S. et al.: A de novo missense variant in POU3F2 identified in a child with global developmental delay. Neuropediatrics 49, 401-404 (2018)
4.
Riedhammer, K.M.* et al.: Identification of a novel heterozygous de novo 7-bp frameshift deletion in PBX1 by whole-exome sequencing causing a multi-organ syndrome including bilateral dysplastic kidneys and hypoplastic clavicles. Front. Pediatr. 5:251 (2017)
5.
Westphal, D.S. et al.: Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report. Gene 616, 41-44 (2017)