Results 161 to 170 of about 2,206,324 (288)

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome [PDF]

, 2004
Russell J. Ferland, Wafaa Eyaid, Randall V. Collura, Laura D Tully, R. Sean Hill, Doha Al-Nouri, Ahmed Al‐Rumayyan, Meral Topçu, Generoso G. Gascon, Adria Bodell, Yin Yao Shugart, Maryellen Ruvolo, Christopher A. Walsh   +12 more
openalex   +1 more source

Linear and whorled nevoid hypermelanosis and Joubert syndrome: a novel association: A case report and literature review

SAGE Open Medical Case Reports, 2019
This report discusses a case of linear and whorled nevoid hypermelanosis associated with cerebellar atrophy, ocular and developmental anomalies compatible with Joubert syndrome.
Carolina Fernandes, Andréanne Waddell, Sara-Élizabeth Jean   +2 more
doaj   +1 more source

Ternary Syndrome Decoding with Large Weight [PDF]

arXiv, 2019
The Syndrome Decoding problem is at the core of many code-based cryptosystems. In this paper, we study ternary Syndrome Decoding in large weight. This problem has been introduced in the Wave signature scheme but has never been thoroughly studied. We perform an algorithmic study of this problem which results in an update of the Wave parameters.
arxiv  

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria [PDF]

, 2004
Tracy Dixon‐Salazar, Jennifer L. Silhavy, Sarah Marsh, Carrie M Louie, Lesley C. Scott, Aithala Gururaj, Lihadh Al‐Gazali, Asma Al-Tawari, Hülya Kayserili, László Sztriha, Joseph G. Gleeson   +10 more
openalex   +1 more source

Joubert Syndrome: Radiographic Images

Case Reports in Clinical Practice, 2017
No ...
Reza Bidaki, Azam Ghanei, Mohammad Ebrahim Ghanei, Ehsan Zarepur   +3 more
doaj  

Joubert Syndrome - A Case Report [PDF]

Journal of Krishna Institute of Medical Sciences University, 2013
Joubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia ...
Bandichhode S. T., Anitha M. S., Anand Pandav   +2 more
doaj  

Axoneme polyglutamylation regulated by Joubert syndrome protein ARL13B controls ciliary targeting of signaling molecules

Nature Communications, 2018
The small GTPase ARL13B is mutated in the human ciliopathy Joubert syndrome. Here the authors show that ARL13B and the RAB11 effector FIP5 promote import of tubulin glutamylase into cilia and as such axoneme polyglutamylation, which is demonstrated to be
Kai He, Xiaoyu Ma, Tao Xu, Yan Li, Allen Hodge, Qing Zhang, Julia Torline, Yan Huang, Jian Zhao, Kun Ling, Jinghua Hu   +10 more
doaj   +1 more source

Joubert syndrome: long‐term follow‐up [PDF]

, 2004
P R Hodgkins, Christopher M. Harris, Fatima Shawkat, Dorothy Thompson, Kling Chong, Christine Timms, Isabelle Russell‐Eggitt, David S. Taylor, A Kriss   +8 more
openalex   +1 more source

A High-Performance List Decoding Algorithm for Surface Codes with Erroneous Syndrome [PDF]

arXiv
Quantum error-correcting codes (QECCs) are necessary for fault-tolerant quantum computation. Surface codes are a class of topological QECCs that have attracted significant attention due to their exceptional error-correcting capabilities and easy implementation.
arxiv  

Towards a Drone Cinematographer: Guiding Quadrotor Cameras using Visual Composition Principles [PDF]

arXiv, 2016
We present a system to capture video footage of human subjects in the real world. Our system leverages a quadrotor camera to automatically capture well-composed video of two subjects. Subjects are tracked in a large-scale outdoor environment using RTK GPS and IMU sensors.
arxiv