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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.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 10, 2013
Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis
Hannah M Tully, Jennifer C Dempsey, Gisele E Ishak, et al.
Human Mutation
|
June 23, 2015
KIAA0586 is Mutated in Joubert Syndrome
Ruxandra Bachmann-Gagescu, Ian G Phelps, Jennifer C Dempsey, 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.
Brain : a Journal of Neurology
|
March 28, 2012
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity
Gisele E Ishak, Jennifer C Dempsey, Dennis W W Shaw, et al.
American Journal of Medical Genetics. Part A
|
July 12, 2019
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome
Jennifer N Dines, Yajuan J Liu, Whitney Neufeld-Kaiser, 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.
American Journal of Medical Genetics. Part A
|
June 25, 2022
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, et al.
American Journal of Human Genetics
|
August 5, 2017
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction
Miroslav P Milev, Megan E Grout, Djenann Saint-Dic, 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.
Page
of 10
Search research articles
Search
Showing results (41-50 of 100) with videos related to
Sort By:
Page
of 10
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.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 10, 2013
Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis
Hannah M Tully, Jennifer C Dempsey, Gisele E Ishak, et al.
Human Mutation
|
June 23, 2015
KIAA0586 is Mutated in Joubert Syndrome
Ruxandra Bachmann-Gagescu, Ian G Phelps, Jennifer C Dempsey, 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.
Brain : a Journal of Neurology
|
March 28, 2012
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity
Gisele E Ishak, Jennifer C Dempsey, Dennis W W Shaw, et al.
American Journal of Medical Genetics. Part A
|
July 12, 2019
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome
Jennifer N Dines, Yajuan J Liu, Whitney Neufeld-Kaiser, 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.
American Journal of Medical Genetics. Part A
|
June 25, 2022
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, et al.
American Journal of Human Genetics
|
August 5, 2017
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction
Miroslav P Milev, Megan E Grout, Djenann Saint-Dic, 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.
Page
of 10