Showing results (181-190 of 190) with videos related to

Sort By:
Pageof 19
You have reached the last page of results.This site can display upto 190 results.
Genome Research|November 14, 2024
Haplotype-resolved genome and population genomics of the threatened garden dormouse in EuropePaige A Byerly, Alina von Thaden, Evgeny Leushkin, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndromeChristine Neuhaus, Tobias Eisenberger, Christian Decker, et al.
Human Mutation|July 22, 2014
Mutation of POC1B in a severe syndromic retinal ciliopathyBodo B Beck, Jennifer B Phillips, Malte P Bartram, et al.
The Journal of Clinical Investigation|March 2, 2023
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesisNafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, et al.
Human Mutation|February 19, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseMiriam Schmidts, Valeska Frank, Tobias Eisenberger, et al.
JCI Insight|October 5, 2023
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumorsGhada M H Abdel-Salam, Susanne Hellmuth, Elise Gradhand, et al.
Plos One|November 23, 2013
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophiesTobias Eisenberger, Christine Neuhaus, Arif O Khan, et al.
Nature Genetics|June 25, 2013
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3Sylvia Hoff, Jan Halbritter, Daniel Epting, et al.
American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
Biomolecules|March 28, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated GenesRebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, et al.
Pageof 19