Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Elke Botzenhart"'
Autor:
Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Christoph Friedburg, Anika Bieg, Martin Gliem, Peter Charbel Issa, Frank G Holz, Shahid M Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, Stefani Körtge-Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y Al-Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J Bolz
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e78496 (2013)
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) has pro
Externí odkaz:
https://doaj.org/article/86539f2aec6b41a1829b76c3c6c0becd
Autor:
Benedikt Schoser, Rolf Schröder, Manfred Wehnert, Jan Senderek, Sabine Rudnik-Schöneborn, Klaus Zerres, Elke Botzenhart, Thomas Eggermann, Brunhilde Wirth
Publikováno v:
Neurogenetics. 8:137-142
The molecular basis of autosomal dominant spinal muscular atrophy (AD-SMA) is largely unknown. Because the phenotypic spectrum of diseases caused by LMNA mutations is extremely broad and includes myopathies, neuropathies, and cardiomyopathies designa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5cd48ae81cb74322c3f4659859f955a
https://doi.org/10.1007/s10048-006-0070-0
https://doi.org/10.1007/s10048-006-0070-0
Autor:
Ravi Savarirayan, Lynn Rowley, Peter McIntyre, Irma Gresshoff, William G. Cole, Elke Botzenhart, David J. Amor, Christopher B. Little, Daniele Belluoccio, Shireen R. Lamandé, Klaus Zerres, Yuan Yuan, K. Kaluarachchi, John F. Bateman
Publikováno v:
Nature genetics. 43(11)
Familial digital arthropathy-brachydactyly (FDAB) is a dominantly inherited condition that is characterized by aggressive osteoarthropathy of the fingers and toes and consequent shortening of the middle and distal phalanges. Here we show in three unr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6010e41fa0fb2c453ccda1c05b4c0795
https://pubmed.ncbi.nlm.nih.gov/21964574
https://pubmed.ncbi.nlm.nih.gov/21964574