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American Journal of Human Genetics
|
March 15, 2006
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome
Irene A Aligianis, Neil V Morgan, Marina Mione, et al.
European Journal of Human Genetics : EJHG
|
July 14, 2018
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants
Elisa Molinari, Eva Decker, Holly Mabillard, et al.
Molecular Vision
|
June 13, 2022
Novel <i>SIX6</i> mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia
Evangelia S Panagiotou, Narcis Fernandez-Fuentes, Layal Abi Farraj, et al.
Journal of Cell Science
|
November 8, 2015
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis
Gisela G Slaats, Gabrielle Wheway, Veronica Foletto, et al.
Human Genetics
|
October 18, 2002
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
Neil V Morgan, Paul Gissen, Saghira Malik Sharif, et al.
Human Molecular Genetics
|
November 29, 2011
A meckelin-filamin A interaction mediates ciliogenesis
Matthew Adams, Roslyn J Simms, Zakia Abdelhamed, et al.
Journal of Medical Genetics
|
October 30, 2021
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
Sunayna Best, Jenny Lord, Matthew Roche, et al.
The Journal of Pediatrics
|
June 23, 2009
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome
Meral Gunay-Aygun, Melissa A Parisi, Dan Doherty, et al.
Plos One
|
August 19, 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing
Christopher M Watson, Mohammed El-Asrag, David A Parry, et al.
American Journal of Human Genetics
|
December 3, 2013
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid
David A Parry, Clare V Logan, Alexander P A Stegmann, et al.
Page
of 14
Search research articles
Search
Showing results (51-60 of 132) with videos related to
Sort By:
Page
of 14
American Journal of Human Genetics
|
March 15, 2006
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome
Irene A Aligianis, Neil V Morgan, Marina Mione, et al.
European Journal of Human Genetics : EJHG
|
July 14, 2018
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants
Elisa Molinari, Eva Decker, Holly Mabillard, et al.
Molecular Vision
|
June 13, 2022
Novel <i>SIX6</i> mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia
Evangelia S Panagiotou, Narcis Fernandez-Fuentes, Layal Abi Farraj, et al.
Journal of Cell Science
|
November 8, 2015
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis
Gisela G Slaats, Gabrielle Wheway, Veronica Foletto, et al.
Human Genetics
|
October 18, 2002
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
Neil V Morgan, Paul Gissen, Saghira Malik Sharif, et al.
Human Molecular Genetics
|
November 29, 2011
A meckelin-filamin A interaction mediates ciliogenesis
Matthew Adams, Roslyn J Simms, Zakia Abdelhamed, et al.
Journal of Medical Genetics
|
October 30, 2021
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
Sunayna Best, Jenny Lord, Matthew Roche, et al.
The Journal of Pediatrics
|
June 23, 2009
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome
Meral Gunay-Aygun, Melissa A Parisi, Dan Doherty, et al.
Plos One
|
August 19, 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing
Christopher M Watson, Mohammed El-Asrag, David A Parry, et al.
American Journal of Human Genetics
|
December 3, 2013
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid
David A Parry, Clare V Logan, Alexander P A Stegmann, et al.
Page
of 14