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Acta Neuropathologica
|
August 4, 2021
Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation
Parthiv Haldipur, Silvia Bernardo, Kimberly A Aldinger, et al.
American Journal of Human Genetics
|
August 5, 2008
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
Vincent Cantagrel, Jennifer L Silhavy, Stephanie L Bielas, et al.
Elife
|
August 27, 2025
Heterozygous variants in <i>PLCG1</i> affect hearing, vision, cardiac, and immune function
Mengqi Ma, Yiming Zheng, Mingxi Deng, 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.
Spinal Cord
|
August 3, 2011
A new grading for easy and concise description of functional status after spinal cord lesions
V Bluvshtein, L Front, M Itzkovich, 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.
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.
Medrxiv : the Preprint Server for Health Sciences
|
June 4, 2026
Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of <i>BAP1</i> Functional Assays for Küry-Isidor Syndrome
Pankhuri Gupta, Elsa V Balton, Mavika Tejura, et al.
Nature
|
September 21, 2022
Unified rhombic lip origins of group 3 and group 4 medulloblastoma
Kyle S Smith, Laure Bihannic, Brian L Gudenas, et al.
Nature
|
February 4, 2026
Rete ridges form via evolutionarily distinct mechanisms in mammalian skin
Sean M Thompson, Violet S Yaple, Gabriella H Searle, et al.
Page
of 69
Search research articles
Search
Showing results (641-650 of 684) with videos related to
Sort By:
Page
of 69
Acta Neuropathologica
|
August 4, 2021
Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation
Parthiv Haldipur, Silvia Bernardo, Kimberly A Aldinger, et al.
American Journal of Human Genetics
|
August 5, 2008
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
Vincent Cantagrel, Jennifer L Silhavy, Stephanie L Bielas, et al.
Elife
|
August 27, 2025
Heterozygous variants in <i>PLCG1</i> affect hearing, vision, cardiac, and immune function
Mengqi Ma, Yiming Zheng, Mingxi Deng, 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.
Spinal Cord
|
August 3, 2011
A new grading for easy and concise description of functional status after spinal cord lesions
V Bluvshtein, L Front, M Itzkovich, 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.
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.
Medrxiv : the Preprint Server for Health Sciences
|
June 4, 2026
Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of <i>BAP1</i> Functional Assays for Küry-Isidor Syndrome
Pankhuri Gupta, Elsa V Balton, Mavika Tejura, et al.
Nature
|
September 21, 2022
Unified rhombic lip origins of group 3 and group 4 medulloblastoma
Kyle S Smith, Laure Bihannic, Brian L Gudenas, et al.
Nature
|
February 4, 2026
Rete ridges form via evolutionarily distinct mechanisms in mammalian skin
Sean M Thompson, Violet S Yaple, Gabriella H Searle, et al.
Page
of 69