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BMC Genomics
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April 18, 2015
Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis
Luyuan Pan, Arish N Shah, Ian G Phelps, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2017
Mortality in Joubert syndrome
Jennifer C Dempsey, Ian G Phelps, Ruxandra Bachmann-Gagescu, et al.
Human Molecular Genetics
|
August 6, 2011
The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking
Ruxandra Bachmann-Gagescu, Ian G Phelps, George Stearns, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity
Ian G Phelps, Jennifer C Dempsey, Megan E Grout, et al.
The Journal of Biological Chemistry
|
March 28, 2013
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions
Karina Tuz, Yi-Chun Hsiao, Oscar Juárez, et al.
Human Mutation
|
June 23, 2015
KIAA0586 is Mutated in Joubert Syndrome
Ruxandra Bachmann-Gagescu, Ian G Phelps, Jennifer C Dempsey, et al.
Biology Open
|
October 14, 2024
Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system
Alexandra R Noble, Markus Masek, Claudia Hofmann, et al.
Plos One
|
January 21, 2026
The impact of delayed evacuation on the quality of human fetal tissue
Yasmeen Otaibi, Kevin Lee, Lucinda Cort, et al.
Journal of Medical Genetics
|
December 18, 2015
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
Markus Schueler, Jan Halbritter, Ian G Phelps, et al.
Human Molecular Genetics
|
July 2, 2015
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
Renske Oegema, Thomas D Cushion, Ian G Phelps, et al.
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of 3
Search research articles
Search
Showing results (1-10 of 25) with videos related to
Sort By:
Page
of 3
BMC Genomics
|
April 18, 2015
Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis
Luyuan Pan, Arish N Shah, Ian G Phelps, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2017
Mortality in Joubert syndrome
Jennifer C Dempsey, Ian G Phelps, Ruxandra Bachmann-Gagescu, et al.
Human Molecular Genetics
|
August 6, 2011
The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking
Ruxandra Bachmann-Gagescu, Ian G Phelps, George Stearns, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity
Ian G Phelps, Jennifer C Dempsey, Megan E Grout, et al.
The Journal of Biological Chemistry
|
March 28, 2013
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions
Karina Tuz, Yi-Chun Hsiao, Oscar Juárez, et al.
Human Mutation
|
June 23, 2015
KIAA0586 is Mutated in Joubert Syndrome
Ruxandra Bachmann-Gagescu, Ian G Phelps, Jennifer C Dempsey, et al.
Biology Open
|
October 14, 2024
Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system
Alexandra R Noble, Markus Masek, Claudia Hofmann, et al.
Plos One
|
January 21, 2026
The impact of delayed evacuation on the quality of human fetal tissue
Yasmeen Otaibi, Kevin Lee, Lucinda Cort, et al.
Journal of Medical Genetics
|
December 18, 2015
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
Markus Schueler, Jan Halbritter, Ian G Phelps, et al.
Human Molecular Genetics
|
July 2, 2015
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
Renske Oegema, Thomas D Cushion, Ian G Phelps, et al.
Page
of 3