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Neurology
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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 craniosynostosis
Isaac 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 syndrome
Neil 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 disorders
Eduardo 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 obesity
Dagan 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 males
Stephen 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 projection
Wenjun 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 projection
Wenjun 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 syndrome
Graeme 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 Transcription
Cristina Dias, Sara B Estruch, Sarah A Graham, et al.
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Search research articles
Search
Showing results (11-20 of 37) with videos related to
Sort By:
Page
of 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 craniosynostosis
Isaac 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 syndrome
Neil 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 disorders
Eduardo 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 obesity
Dagan 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 males
Stephen 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 projection
Wenjun 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 projection
Wenjun 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 syndrome
Graeme 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 Transcription
Cristina Dias, Sara B Estruch, Sarah A Graham, et al.
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