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Results: 1-3 |
Results: 3
Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
Authors: Becker, Jutta Semler, Oliver Gilissen, Christian Li, Yun Netzer, Christian
Citation: Becker, Jutta et al., Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta, American journal of human genetics (Online) AJHG , 88(3), 2011, pp. 362-371
Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
Authors: Gilissen, Christian H. Arts, Heleen Hoischen, Alexander Spruijt, Liesbeth Brunner, Han G.
Citation: Gilissen, Christian et al., Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 418-423
Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia
Authors: Vermeer, Sascha Hoischen, Alexander Meijer, Rowdy P.P. Gilissen, Christian Knoers, Nine
Citation: Vermeer, Sascha et al., Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 813-819
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