PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Trieschmann, G.* ; Wilhelm, C.* ; Berweck, S.* & Zech, M. De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia. Eur. J. Med. Genet. 66:104802 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68447&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68447&la=de Wed, 18 Oct 2023 00:00:00 +0000 <![CDATA[Harrer, P. et al. A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article "BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).". Eur. J. Med. Genet. 65:104635 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66345&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66345&la=de Wed, 23 Nov 2022 00:00:00 +0000 <![CDATA[Krenn, M.* et al. A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disability. Eur. J. Med. Genet. 65:104423 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64067&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64067&la=de Tue, 31 May 2022 00:00:00 +0000 <![CDATA[Illsinger, S.* et al. Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches. Eur. J. Med. Genet. 63:104046 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59983&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59983&la=de Thu, 22 Oct 2020 00:00:00 +0000 <![CDATA[Mercati, O.* et al. PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review. Eur. J. Med. Genet. 63:104033 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59950&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59950&la=de Tue, 20 Oct 2020 00:00:00 +0000 <![CDATA[Kloth, K.* et al. First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features. Eur. J. Med. Genet. 60, 494-498 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51493&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51493&la=de Thu, 27 Jul 2017 00:00:00 +0000 <![CDATA[Pozojevic, J.* et al. Novel mosaic variants in two patients with Cornelia de Lange syndrome. Eur. J. Med. Genet. 61, 680-684 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52370&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52370&la=de Mon, 27 Nov 2017 00:00:00 +0000 <![CDATA[Bürk, K.* et al. A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression. Eur. J. Med. Genet. 57, 207-211 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=29314&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=29314&la=de Mon, 10 Feb 2014 00:00:00 +0000 <![CDATA[Auer-Grumbach, M.* et al. Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. Eur. J. Med. Genet. 56, 266-269 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=26076&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=26076&la=de Tue, 30 Jul 2013 00:00:00 +0000 <![CDATA[Oexle, K.* et al. 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome. Eur. J. Med. Genet. 54, 225-230 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4063&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4063&la=de Thu, 30 Jun 2011 00:00:00 +0000