Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Hanno Jörn Bolz"'
Autor:
Marcel Nebenführ, David Prochotta, Alexander Ben Hamadou, Axel Janke, Charlotte Gerheim, Christian Betz, Carola Greve, Hanno Jörn Bolz
Publikováno v:
GigaByte (2024)
The time required for genome sequencing and de novo assembly depends on the interaction between laboratory work, sequencing capacity, and the bioinformatics workflow, often constrained by external sequencing services. Bringing together academic biodi
Externí odkaz:
https://doaj.org/article/d8b916d6d1bb40ae963686850c1a444a
Autor:
Bastian Linder, Anja Hirmer, Andreas Gal, Klaus Rüther, Hanno Jörn Bolz, Christoph Winkler, Bernhard Laggerbauer, Utz Fischer
Publikováno v:
PLoS ONE, Vol 9, Iss 11, p e111754 (2014)
Pre-mRNA splicing by the spliceosome is an essential step in the maturation of nearly all human mRNAs. Mutations in six spliceosomal proteins, PRPF3, PRPF4, PRPF6, PRPF8, PRPF31 and SNRNP200, cause retinitis pigmentosa (RP), a disease characterized b
Externí odkaz:
https://doaj.org/article/6140c1431828454bb6ad7def5e7a7b1c
Autor:
Ghada M H, Abdel-Salam, Mohamed S, Abdel-Hamid, Inas S M, Sayed, Ulrich, Zechner, Hanno Jörn, Bolz
Publikováno v:
Journal of human genetics. 67(1)
Biallelic pathogenic variants of OTUD6B have recently been described to cause intellectual disability (ID) with seizures. Here, we report the clinical and molecular characterization of five additional patients (from two unrelated Egyptian families) w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::62a10d4b0b22c24b6fbfa2cdfd410a79
https://pubmed.ncbi.nlm.nih.gov/34354232
https://pubmed.ncbi.nlm.nih.gov/34354232
Autor:
Klaus, Rohrschneider, Hanno Jörn, Bolz
Publikováno v:
Klinische Monatsblatter fur Augenheilkunde. 237(3)
The Bardet-Biedl syndrome (BBS) is a rare inherited ciliopathy, which is accompanied by retinal disease, i.e. rod-cone dystrophy (retinitis pigmentosa, RP) and other symptoms, especially truncal obesity, polydactyly, renal abnormalities as well as re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ecfba87b56294334331657f947300cbc
https://pubmed.ncbi.nlm.nih.gov/32182628
https://pubmed.ncbi.nlm.nih.gov/32182628
Autor:
Hanno Jörn Bolz
Publikováno v:
Klinische Monatsblätter für Augenheilkunde. 235:258-263
ZusammenfassungInnerhalb weniger Jahre ist die Anwendung von Hochdurchsatzsequenzierung (next-generation sequencing, NGS) in der genetischen Diagnostik zur Routine geworden und hat die konventionelle Sanger-Sequenzierung aus vielen Bereichen weitgehe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e75fa63abec18e135321844fc4976941
https://doi.org/10.1055/s-0043-122076
https://doi.org/10.1055/s-0043-122076
Autor:
Hanno Jörn, Bolz
Publikováno v:
Klinische Monatsblatter fur Augenheilkunde. 235(3)
Within a few years, high-throughput sequencing (next-generation sequencing, NGS) has become a routine method in genetic diagnostics and has largely replaced conventional Sanger sequencing. The complexity of NGS data requires sound bioinformatic analy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::63aa3883695012bbed00ec5103c657b7
https://pubmed.ncbi.nlm.nih.gov/29390234
https://pubmed.ncbi.nlm.nih.gov/29390234
Autor:
Adeel, Ahmad, Shakeela, Daud, Naseebullah, Kakar, Gudrun, Nürnberg, Peter, Nürnberg, Masroor Ellahi, Babar, Michaela, Thoenes, Christian, Kubisch, Jamil, Ahmad, Hanno Jörn, Bolz
Publikováno v:
Molecular Vision
Purpose To determine the cause of Leber congenital amaurosis (LCA) and developmental cataracts in a consanguineous Pakistani family. Methods The diagnosis was established in all affected individuals of a Pakistani LCA family by medical history, fundu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ea26ebe6b2d9d76a4e743ac253fff2ce
https://pubmed.ncbi.nlm.nih.gov/21850168
https://pubmed.ncbi.nlm.nih.gov/21850168
Autor:
Inga, Ebermann, Robert, Wilke, Thomas, Lauhoff, Dirk, Lübben, Eberhart, Zrenner, Hanno Jörn, Bolz
Publikováno v:
Molecular vision. 13
To identify the genetic defect in a German family with Usher syndrome (USH) and linkage to the USH3A locus.DNA samples of five family members (both parents and the three patients) were genotyped with polymorphic microsatellite markers specific for ei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4706a911ff7f1123ddd9613017dede2e
https://pubmed.ncbi.nlm.nih.gov/17893653
https://pubmed.ncbi.nlm.nih.gov/17893653