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American Journal of Human Genetics
|
December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
Lijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
Nature Genetics
|
January 25, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Erica E Davis, Qi Zhang, Qin Liu, et al.
American Journal of Human Genetics
|
July 31, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Carol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
American Journal of Human Genetics
|
May 3, 2024
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Carol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
American Journal of Human Genetics
|
September 8, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Carol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
American Journal of Human Genetics
|
October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Carlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
Nature Genetics
|
February 14, 2017
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
John J Reynolds, Louise S Bicknell, Paula Carroll, et al.
Nature Cell Biology
|
July 14, 2015
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
Gabrielle Wheway, Miriam Schmidts, Dorus A Mans, et al.
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Search research articles
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Showing results (41-50 of 48) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 48 results.
American Journal of Human Genetics
|
December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
Lijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
Nature Genetics
|
January 25, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Erica E Davis, Qi Zhang, Qin Liu, et al.
American Journal of Human Genetics
|
July 31, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Carol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
American Journal of Human Genetics
|
May 3, 2024
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Carol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
American Journal of Human Genetics
|
September 8, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Carol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
American Journal of Human Genetics
|
October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Carlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
Nature Genetics
|
February 14, 2017
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
John J Reynolds, Louise S Bicknell, Paula Carroll, et al.
Nature Cell Biology
|
July 14, 2015
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
Gabrielle Wheway, Miriam Schmidts, Dorus A Mans, et al.
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of 5