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Joseph G Gleeson

Showing results (221-230 of 325) with videos related to

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Cell|July 20, 2010
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderVincent Cantagrel, Dirk J Lefeber, Bobby G Ng, et al.
Human Mutation|March 17, 2010
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathiesMiriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, et al.
Journal of Medical Genetics|November 11, 2020
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndromePasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, et al.
Nature|April 21, 2022
Somatic mosaicism reveals clonal distributions of neocortical developmentMartin W Breuss, Xiaoxu Yang, Johannes C M Schlachetzki, et al.
Human Mutation|October 30, 2013
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary ciliumSophie Thomas, Kevin J Wright, Stéphanie Le Corre, et al.
American Journal of Human Genetics|August 5, 2008
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeVincent Cantagrel, Jennifer L Silhavy, Stephanie L Bielas, et al.
American Journal of Human Genetics|January 16, 2026
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disordersJesse M Levine, Daniel G Calame, Riccardo Sangermano, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 21, 2015
The human gene damage index as a gene-level approach to prioritizing exome variantsYuval Itan, Lei Shang, Bertrand Boisson, et al.
Brain : a Journal of Neurology|June 30, 2022
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disordersNataliya Di Donato, Renzo Guerrini, Charles J Billington, et al.
American Journal of Human Genetics|October 3, 2017
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal DefectsRoberta De Mori, Marta Romani, Stefano D'Arrigo, et al.
Pageof 33

Showing results (221-230 of 325) with videos related to

Sort By:
Pageof 33
Cell|July 20, 2010
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderVincent Cantagrel, Dirk J Lefeber, Bobby G Ng, et al.
Human Mutation|March 17, 2010
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathiesMiriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, et al.
Journal of Medical Genetics|November 11, 2020
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndromePasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, et al.
Nature|April 21, 2022
Somatic mosaicism reveals clonal distributions of neocortical developmentMartin W Breuss, Xiaoxu Yang, Johannes C M Schlachetzki, et al.
Human Mutation|October 30, 2013
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary ciliumSophie Thomas, Kevin J Wright, Stéphanie Le Corre, et al.
American Journal of Human Genetics|August 5, 2008
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeVincent Cantagrel, Jennifer L Silhavy, Stephanie L Bielas, et al.
American Journal of Human Genetics|January 16, 2026
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disordersJesse M Levine, Daniel G Calame, Riccardo Sangermano, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 21, 2015
The human gene damage index as a gene-level approach to prioritizing exome variantsYuval Itan, Lei Shang, Bertrand Boisson, et al.
Brain : a Journal of Neurology|June 30, 2022
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disordersNataliya Di Donato, Renzo Guerrini, Charles J Billington, et al.
American Journal of Human Genetics|October 3, 2017
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal DefectsRoberta De Mori, Marta Romani, Stefano D'Arrigo, et al.
Pageof 33