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List of works by Hanno Jörn Bolz

Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels

scientific article published on 07 March 2010

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

scientific article

Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa

scientific article

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts

scientific article

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing

scientific article published on 6 June 2008

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

scientific article

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

scientific article

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

scientific article

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

scientific article published on 23 January 2014

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