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David A Stevenson

Showing results (151-160 of 167) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2021
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendationEric Legius, Ludwine Messiaen, Pierre Wolkenstein, et al.
Neuro-Oncology|July 5, 2022
MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensusPeter M K de Blank, Andrea M Gross, Srivandana Akshintala, et al.
Genome Medicine|August 16, 2017
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disordersBret L Bostwick, Scott McLean, Jennifer E Posey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 8, 2022
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendationScott R Plotkin, Ludwine Messiaen, Eric Legius, et al.
American Journal of Human Genetics|August 30, 2016
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeRicky S Joshi, Paras Garg, Noah Zaitlen, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Update from the 2013 International Neurofibromatosis ConferenceScott R Plotkin, Anne C Albers, Dusica Babovic-Vuksanovic, et al.
American Journal of Medical Genetics. Part A|October 11, 2018
Proceedings of the fifth international RASopathies symposium: When development and cancer intersectKatherine A Rauen, Lisa Schoyer, Lisa Schill, et al.
American Journal of Medical Genetics. Part A|December 17, 2009
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and backKatherine A Rauen, Lisa Schoyer, Frank McCormick, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
American Journal of Medical Genetics. Part A|March 10, 2022
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discoveryMaria I Kontaridis, Amy E Roberts, Lisa Schill, et al.
Pageof 17

Showing results (151-160 of 167) with videos related to

Sort By:
Pageof 17
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2021
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendationEric Legius, Ludwine Messiaen, Pierre Wolkenstein, et al.
Neuro-Oncology|July 5, 2022
MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensusPeter M K de Blank, Andrea M Gross, Srivandana Akshintala, et al.
Genome Medicine|August 16, 2017
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disordersBret L Bostwick, Scott McLean, Jennifer E Posey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 8, 2022
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendationScott R Plotkin, Ludwine Messiaen, Eric Legius, et al.
American Journal of Human Genetics|August 30, 2016
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeRicky S Joshi, Paras Garg, Noah Zaitlen, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Update from the 2013 International Neurofibromatosis ConferenceScott R Plotkin, Anne C Albers, Dusica Babovic-Vuksanovic, et al.
American Journal of Medical Genetics. Part A|October 11, 2018
Proceedings of the fifth international RASopathies symposium: When development and cancer intersectKatherine A Rauen, Lisa Schoyer, Lisa Schill, et al.
American Journal of Medical Genetics. Part A|December 17, 2009
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and backKatherine A Rauen, Lisa Schoyer, Frank McCormick, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
American Journal of Medical Genetics. Part A|March 10, 2022
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discoveryMaria I Kontaridis, Amy E Roberts, Lisa Schill, et al.
Pageof 17