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Kym M Boycott

Showing results (11-20 of 239) with videos related to

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Journal of Child Neurology|February 10, 2018
Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPASTMeredith K Gillespie, Peter Humphreys, Hugh J McMillan, et al.
Nature Reviews. Genetics|September 4, 2013
Rare-disease genetics in the era of next-generation sequencing: discovery to translationKym M Boycott, Megan R Vanstone, Dennis E Bulman, et al.
Current Neurology and Neuroscience Reports|June 25, 2013
Recent advances in the genetic etiology of brain malformationsDavid A Dyment, Sarah L Sawyer, Jodi Warman-Chardon, et al.
Human Molecular Genetics|July 9, 2015
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coinLaura M McDonell, Kristin D Kernohan, Kym M Boycott, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairmentChristine M Armour, Peter Humphreys, Raoul C M Hennekam, et al.
Journal of Pediatric Surgery|September 13, 2007
Feingold syndome: a rare but important cause of syndromic tracheoesophageal fistulaLeah Layman-Pleet, Carl-Christian A Jackson, Shirley Chou, et al.
Current Neurology and Neuroscience Reports|August 21, 2015
Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation SequencingJodi Warman Chardon, Chandree Beaulieu, Taila Hartley, et al.
Journal of Child Neurology|October 8, 2009
A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicismAleksandra Mineyko, Asif Doja, Julie Hurteau, et al.
American Journal of Medical Genetics. Part A|August 25, 2023
Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literatureHeather Leduc-Pessah, Alexandre White-Brown, Elka Miller, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|August 15, 2018
Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the LiteratureRaniah Al Qawahmed, Sarah L Sawyer, Michael Vassilyadi, et al.
Pageof 24

Showing results (11-20 of 239) with videos related to

Sort By:
Pageof 24
Journal of Child Neurology|February 10, 2018
Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPASTMeredith K Gillespie, Peter Humphreys, Hugh J McMillan, et al.
Nature Reviews. Genetics|September 4, 2013
Rare-disease genetics in the era of next-generation sequencing: discovery to translationKym M Boycott, Megan R Vanstone, Dennis E Bulman, et al.
Current Neurology and Neuroscience Reports|June 25, 2013
Recent advances in the genetic etiology of brain malformationsDavid A Dyment, Sarah L Sawyer, Jodi Warman-Chardon, et al.
Human Molecular Genetics|July 9, 2015
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coinLaura M McDonell, Kristin D Kernohan, Kym M Boycott, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairmentChristine M Armour, Peter Humphreys, Raoul C M Hennekam, et al.
Journal of Pediatric Surgery|September 13, 2007
Feingold syndome: a rare but important cause of syndromic tracheoesophageal fistulaLeah Layman-Pleet, Carl-Christian A Jackson, Shirley Chou, et al.
Current Neurology and Neuroscience Reports|August 21, 2015
Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation SequencingJodi Warman Chardon, Chandree Beaulieu, Taila Hartley, et al.
Journal of Child Neurology|October 8, 2009
A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicismAleksandra Mineyko, Asif Doja, Julie Hurteau, et al.
American Journal of Medical Genetics. Part A|August 25, 2023
Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literatureHeather Leduc-Pessah, Alexandre White-Brown, Elka Miller, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|August 15, 2018
Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the LiteratureRaniah Al Qawahmed, Sarah L Sawyer, Michael Vassilyadi, et al.
Pageof 24