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E V MORTON

Showing results (1-10 of 30) with videos related to

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American Journal of Medical Genetics. Part A|July 14, 2016
Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromesJenny E V Morton, Sophia Frentz, Tim Morgan, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|November 2, 2005
Familial Dandy-Walker syndrome: a case report supporting an autosomal inheritanceThomas W H Bragg, Edward J St George, Guy A Wynne-Jones, et al.
Human Mutation|May 16, 2021
Dissection of contiguous gene effects for deletions around ERF on chromosome 19Eduardo Calpena, Simon J McGowan, Fiona Blanco Kelly, et al.
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.
Pageof 3

Showing results (1-10 of 30) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|July 14, 2016
Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromesJenny E V Morton, Sophia Frentz, Tim Morgan, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|November 2, 2005
Familial Dandy-Walker syndrome: a case report supporting an autosomal inheritanceThomas W H Bragg, Edward J St George, Guy A Wynne-Jones, et al.
Human Mutation|May 16, 2021
Dissection of contiguous gene effects for deletions around ERF on chromosome 19Eduardo Calpena, Simon J McGowan, Fiona Blanco Kelly, et al.
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.
Pageof 3