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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.
Genes
|
August 27, 2021
A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
Pleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, 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.
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.
British Journal of Sports Medicine
|
November 26, 2020
World Health Organization 2020 guidelines on physical activity and sedentary behaviour
Fiona C Bull, Salih S Al-Ansari, Stuart Biddle, 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 International Journal of Behavioral Nutrition and Physical Activity
|
November 26, 2020
Advancing the global physical activity agenda: recommendations for future research by the 2020 WHO physical activity and sedentary behavior guidelines development group
Loretta DiPietro, Salih Saad Al-Ansari, Stuart J H Biddle, et al.
The Journal of Clinical Investigation
|
May 27, 2020
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
Brooke L Latour, Julie C Van De Weghe, Tamara Ds Rusterholz, et al.
Journal of Medical Genetics
|
October 22, 2021
<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
Valentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.
ESMO Real World Data and Digital Oncology
|
February 6, 2026
Challenges and opportunities for real-world evidence in clinical oncology-a view from the UK: proceedings of a national workshop
M Craddock, C Dempsey, D Abdulwahid, et al.
Page
of 27
Search research articles
Search
Showing results (251-260 of 264) with videos related to
Sort By:
Page
of 27
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.
Genes
|
August 27, 2021
A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
Pleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, 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.
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.
British Journal of Sports Medicine
|
November 26, 2020
World Health Organization 2020 guidelines on physical activity and sedentary behaviour
Fiona C Bull, Salih S Al-Ansari, Stuart Biddle, 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 International Journal of Behavioral Nutrition and Physical Activity
|
November 26, 2020
Advancing the global physical activity agenda: recommendations for future research by the 2020 WHO physical activity and sedentary behavior guidelines development group
Loretta DiPietro, Salih Saad Al-Ansari, Stuart J H Biddle, et al.
The Journal of Clinical Investigation
|
May 27, 2020
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
Brooke L Latour, Julie C Van De Weghe, Tamara Ds Rusterholz, et al.
Journal of Medical Genetics
|
October 22, 2021
<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
Valentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.
ESMO Real World Data and Digital Oncology
|
February 6, 2026
Challenges and opportunities for real-world evidence in clinical oncology-a view from the UK: proceedings of a national workshop
M Craddock, C Dempsey, D Abdulwahid, et al.
Page
of 27