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Items: 4

1.
Co‐occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1
Hildegard Kehrer‐Sawatzki, Uwe Kordes, Simone Seiffert, Anna Summerer, Christian Hagel, Ulrich Schüller, Said Farschtschi, Reinhard Schneppenheim, Martin Bendszus, Tim Godel, Victor‐Felix Mautner
Mol Genet Genomic Med. 2018 Jul; 6(4): 627–637. Published online 2018 May 20. doi: 10.1002/mgg3.412
PMCID:
PMC6081224
ArticlePDF–2.8M
2.
Exon-Skipping Antisense Oligonucleotides to Correct Missplicing in Neurogenetic Diseases
Kavitha Siva, Giuseppina Covello, Michela A. Denti
Nucleic Acid Ther. 2014 Feb 1; 24(1): 69–86. doi: 10.1089/nat.2013.0461
PMCID:
PMC3922311
ArticlePDF–689K
3.
In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2
Elisabeth Castellanos, Imma Rosas, Ares Solanes, Isabel Bielsa, Conxi Lázaro, Cristina Carrato, Cristina Hostalot, Pepe Prades, Francesc Roca-Ribas, Ignacio Blanco, Eduard Serra
Eur J Hum Genet. 2013 Jul; 21(7): 769–773. Published online 2012 Nov 28. doi: 10.1038/ejhg.2012.261
Correction in:
Eur J Hum Genet. 2014 Jan; 22(1): 153.
PMCID:
PMC3722955
ArticlePDF–762K
4.
Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
Jennifer J. Johnston, Wendy S. Rubinstein, Flavia M. Facio, David Ng, Larry N. Singh, Jamie K. Teer, James C. Mullikin, Leslie G. Biesecker
Am J Hum Genet. 2012 Jul 13; 91(1): 97–108. doi: 10.1016/j.ajhg.2012.05.021
PMCID:
PMC3397257
ArticlePDF–506K

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