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American Journal of Human Genetics
|
June 20, 2017
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, et al.
Journal of Medical Genetics
|
June 21, 2015
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
R Bachmann-Gagescu, J C Dempsey, I G Phelps, et al.
American Journal of Human Genetics
|
December 24, 2013
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy
Karina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, et al.
Human Mutation
|
November 1, 2020
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
Daniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, et al.
Journal of Medical Genetics
|
October 23, 2015
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
Gisela G Slaats, Christine R Isabella, Hester Y Kroes, et al.
The Journal of Investigative Dermatology
|
February 14, 2014
Dissection of immune gene networks in primary melanoma tumors critical for antitumor surveillance of patients with stage II-III resectable disease
Shanthi Sivendran, Rui Chang, Lisa Pham, et al.
Science (New York, N.Y.)
|
May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletion
Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, 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 (211-220 of 218) with videos related to
Sort By:
Page
of 22
You have reached the last page of results.
This site can display upto 218 results.
American Journal of Human Genetics
|
June 20, 2017
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, et al.
Journal of Medical Genetics
|
June 21, 2015
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
R Bachmann-Gagescu, J C Dempsey, I G Phelps, et al.
American Journal of Human Genetics
|
December 24, 2013
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy
Karina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, et al.
Human Mutation
|
November 1, 2020
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
Daniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, et al.
Journal of Medical Genetics
|
October 23, 2015
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
Gisela G Slaats, Christine R Isabella, Hester Y Kroes, et al.
The Journal of Investigative Dermatology
|
February 14, 2014
Dissection of immune gene networks in primary melanoma tumors critical for antitumor surveillance of patients with stage II-III resectable disease
Shanthi Sivendran, Rui Chang, Lisa Pham, et al.
Science (New York, N.Y.)
|
May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletion
Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, 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.
Page
of 22