Showing results (41-50 of 49) with videos related to
Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 49 results.
Investigative Ophthalmology & Visual Science|September 24, 2010
Molecular and clinical characterization of albinism in a large cohort of Italian patientsAnnagiusi Gargiulo, Francesco Testa, Settimio Rossi, et al.American Journal of Medical Genetics. Part A|July 25, 2022
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorderGerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, et al.BMC Genetics|March 8, 2002
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIXElizabeth C Engle, Nathalie McIntosh, Koki Yamada, et al.Biorxiv : the Preprint Server for Biology|September 24, 2024
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarraysJulie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.Investigative Ophthalmology & Visual Science|June 30, 2004
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)Koki Yamada, Wai-Man Chan, Caroline Andrews, et al.Investigative Ophthalmology & Visual Science|March 31, 2025
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding MicroarraysJulie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.Nature Genetics|November 5, 2003
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)Koki Yamada, Caroline Andrews, Wai-Man Chan, et al.American Journal of Human Genetics|July 2, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX GenesIngrid Paine, Jennifer E Posey, Christopher M Grochowski, et al.Cell|January 16, 2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceMax A Tischfield, Hagit N Baris, Chen Wu, et al.Pageof 5