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Tobias Eisenberger

Showing results (1-10 of 26) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|October 25, 2006
Murine inner cell mass-derived lineages depend on Sall4 functionUlrich Elling, Christian Klasen, Tobias Eisenberger, et al.
The British Journal of Ophthalmology|October 25, 2014
A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian PeninsulaArif O Khan, Carsten Bergmann, Tobias Eisenberger, et al.
The British Journal of Ophthalmology|August 22, 2015
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary ciliumArif O Khan, Tobias Eisenberger, Kerstin Nagel-Wolfrum, et al.
Human Molecular Genetics|February 9, 2022
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathiesDaniel Epting, Eva Decker, Elisabeth Ott, et al.
The British Journal of Ophthalmology|March 19, 2013
The RPGRIP1-related retinal phenotype in childrenArif O Khan, Leen Abu-Safieh, Tobias Eisenberger, et al.
Human Gene Therapy|May 6, 2005
The nonviral episomal replicating vector pEPI-1 allows long-term inhibition of bcr-abl expression by shRNAAndreas C W Jenke, Tobias Eisenberger, Armin Baiker, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 24, 2004
Nuclear scaffold/matrix attached region modules linked to a transcription unit are sufficient for replication and maintenance of a mammalian episomeAndreas C W Jenke, Isa M Stehle, Frank Herrmann, et al.
HGG Advances|September 11, 2025
PATJ deficiency leads to cystic kidney disease and related ciliopathiesDaniel Epting, Daniela A Braun, Eva Decker, et al.
Orphanet Journal of Rare Diseases|September 4, 2012
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3Tobias Eisenberger, Rima Slim, Ahmad Mansour, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2018
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73Tobias Eisenberger, Nataliya Di Donato, Christian Decker, et al.
Pageof 3

Showing results (1-10 of 26) with videos related to

Sort By:
Pageof 3
Proceedings of the National Academy of Sciences of the United States of America|October 25, 2006
Murine inner cell mass-derived lineages depend on Sall4 functionUlrich Elling, Christian Klasen, Tobias Eisenberger, et al.
The British Journal of Ophthalmology|October 25, 2014
A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian PeninsulaArif O Khan, Carsten Bergmann, Tobias Eisenberger, et al.
The British Journal of Ophthalmology|August 22, 2015
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary ciliumArif O Khan, Tobias Eisenberger, Kerstin Nagel-Wolfrum, et al.
Human Molecular Genetics|February 9, 2022
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathiesDaniel Epting, Eva Decker, Elisabeth Ott, et al.
The British Journal of Ophthalmology|March 19, 2013
The RPGRIP1-related retinal phenotype in childrenArif O Khan, Leen Abu-Safieh, Tobias Eisenberger, et al.
Human Gene Therapy|May 6, 2005
The nonviral episomal replicating vector pEPI-1 allows long-term inhibition of bcr-abl expression by shRNAAndreas C W Jenke, Tobias Eisenberger, Armin Baiker, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 24, 2004
Nuclear scaffold/matrix attached region modules linked to a transcription unit are sufficient for replication and maintenance of a mammalian episomeAndreas C W Jenke, Isa M Stehle, Frank Herrmann, et al.
HGG Advances|September 11, 2025
PATJ deficiency leads to cystic kidney disease and related ciliopathiesDaniel Epting, Daniela A Braun, Eva Decker, et al.
Orphanet Journal of Rare Diseases|September 4, 2012
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3Tobias Eisenberger, Rima Slim, Ahmad Mansour, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2018
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73Tobias Eisenberger, Nataliya Di Donato, Christian Decker, et al.
Pageof 3