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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 services
Saumeh 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 services
Saumeh 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 genes
Zain 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 delivery
Stephanie 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 microarrays
Gregory 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 variants
Bushra 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 accessibility
Debjit 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 development
Sonali 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 Syndrome
Daniele Merico, Mehdi Zarrei, Gregory Costain, et al.
Page
of 15
Search research articles
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Showing results (71-80 of 144) with videos related to
Sort By:
Page
of 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 services
Saumeh 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 services
Saumeh 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 genes
Zain 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 delivery
Stephanie 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 microarrays
Gregory 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 variants
Bushra 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 accessibility
Debjit 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 development
Sonali 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 Syndrome
Daniele Merico, Mehdi Zarrei, Gregory Costain, et al.
Page
of 15