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Gregory Costain

Showing results (71-80 of 144) with videos related to

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European Journal of Human Genetics : EJHG|April 2, 2026
Correction: The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics servicesSaumeh Saeedi, Daena Hirjikaka, Marc Clausen, et al.
European Journal of Human Genetics : EJHG|May 30, 2025
The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics servicesSaumeh Saeedi, Daena Hirijkaka, Marc Clausen, et al.
European Journal of Human Genetics : EJHG|April 1, 2022
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genesZain Awamleh, Eric Chater-Diehl, Sanaa Choufani, et al.
Human Genetics|January 11, 2023
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service deliveryStephanie Luca, Marc Clausen, Angela Shaw, et al.
Journal of Genetic Counseling|October 21, 2021
Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?Whiwon Lee, Stephanie Luca, Gregory Costain, et al.
Human Molecular Genetics|July 2, 2013
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarraysGregory Costain, Anath C Lionel, Daniele Merico, et al.
Plos Genetics|January 6, 2025
Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variantsBushra Haque, David Cheerie, Amy Pan, et al.
Nature Communications|May 20, 2024
Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m<sup>6</sup>A site accessibilityDebjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, et al.
Journal of Neurosurgery. Pediatrics|January 22, 2026
Seizure outcomes after VNS therapy in children with drug-resistant epilepsy due to monogenic etiologies versus malformations of cortical developmentSonali Singh, Adnan Waheed, Nitin Gupta, et al.
G3 (Bethesda, Md.)|September 19, 2015
Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion SyndromeDaniele Merico, Mehdi Zarrei, Gregory Costain, et al.
Pageof 15

Showing results (71-80 of 144) with videos related to

Sort By:
Pageof 15
European Journal of Human Genetics : EJHG|April 2, 2026
Correction: The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics servicesSaumeh Saeedi, Daena Hirjikaka, Marc Clausen, et al.
European Journal of Human Genetics : EJHG|May 30, 2025
The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics servicesSaumeh Saeedi, Daena Hirijkaka, Marc Clausen, et al.
European Journal of Human Genetics : EJHG|April 1, 2022
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genesZain Awamleh, Eric Chater-Diehl, Sanaa Choufani, et al.
Human Genetics|January 11, 2023
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service deliveryStephanie Luca, Marc Clausen, Angela Shaw, et al.
Journal of Genetic Counseling|October 21, 2021
Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?Whiwon Lee, Stephanie Luca, Gregory Costain, et al.
Human Molecular Genetics|July 2, 2013
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarraysGregory Costain, Anath C Lionel, Daniele Merico, et al.
Plos Genetics|January 6, 2025
Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variantsBushra Haque, David Cheerie, Amy Pan, et al.
Nature Communications|May 20, 2024
Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m<sup>6</sup>A site accessibilityDebjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, et al.
Journal of Neurosurgery. Pediatrics|January 22, 2026
Seizure outcomes after VNS therapy in children with drug-resistant epilepsy due to monogenic etiologies versus malformations of cortical developmentSonali Singh, Adnan Waheed, Nitin Gupta, et al.
G3 (Bethesda, Md.)|September 19, 2015
Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion SyndromeDaniele Merico, Mehdi Zarrei, Gregory Costain, et al.
Pageof 15