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E V Morton

Showing results (11-20 of 37) with videos related to

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Neurology|April 30, 2008
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)M A Kurian, N V Morgan, L MacPherson, et al.
Journal of Anatomy|May 17, 2024
Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosisIsaac S Walton, Emma McCann, Astrid Weber, et al.
American Journal of Human Genetics|July 11, 2006
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndromeNeil V Morgan, Louise A Brueton, Phillip Cox, et al.
Journal of Medical Genetics|January 13, 2021
Unexpected role of <i>SIX1</i> variants in craniosynostosis: expanding the phenotype of <i>SIX1</i>-related disordersEduardo Calpena, Maud Wurmser, Simon J McGowan, et al.
American Journal of Human Genetics|May 16, 2007
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesityDagan Jenkins, Dominik Seelow, Fernanda S Jehee, et al.
American Journal of Human Genetics|May 11, 2006
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesStephen R F Twigg, Kazuya Matsumoto, Alexa M J Kidd, et al.
Nature Neuroscience|January 22, 2019
Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projectionWenjun Zhou, Yanlin He, Atteeq U Rehman, et al.
Nature Neuroscience|June 22, 2019
Author Correction: Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projectionWenjun Zhou, Yanlin He, Atteeq U Rehman, et al.
American Journal of Medical Genetics. Part A|February 14, 2019
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndromeGraeme E Glass, Justine O'Hara, Natalie Canham, et al.
American Journal of Human Genetics|July 26, 2016
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates TranscriptionCristina Dias, Sara B Estruch, Sarah A Graham, et al.
Pageof 4

Showing results (11-20 of 37) with videos related to

Sort By:
Pageof 4
Neurology|April 30, 2008
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)M A Kurian, N V Morgan, L MacPherson, et al.
Journal of Anatomy|May 17, 2024
Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosisIsaac S Walton, Emma McCann, Astrid Weber, et al.
American Journal of Human Genetics|July 11, 2006
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndromeNeil V Morgan, Louise A Brueton, Phillip Cox, et al.
Journal of Medical Genetics|January 13, 2021
Unexpected role of <i>SIX1</i> variants in craniosynostosis: expanding the phenotype of <i>SIX1</i>-related disordersEduardo Calpena, Maud Wurmser, Simon J McGowan, et al.
American Journal of Human Genetics|May 16, 2007
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesityDagan Jenkins, Dominik Seelow, Fernanda S Jehee, et al.
American Journal of Human Genetics|May 11, 2006
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesStephen R F Twigg, Kazuya Matsumoto, Alexa M J Kidd, et al.
Nature Neuroscience|January 22, 2019
Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projectionWenjun Zhou, Yanlin He, Atteeq U Rehman, et al.
Nature Neuroscience|June 22, 2019
Author Correction: Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projectionWenjun Zhou, Yanlin He, Atteeq U Rehman, et al.
American Journal of Medical Genetics. Part A|February 14, 2019
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndromeGraeme E Glass, Justine O'Hara, Natalie Canham, et al.
American Journal of Human Genetics|July 26, 2016
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates TranscriptionCristina Dias, Sara B Estruch, Sarah A Graham, et al.
Pageof 4