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Hilary C Martin

Showing results (41-50 of 68) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|August 12, 2024
An axis of genetic heterogeneity in autism is indexed by age at diagnosis and is associated with varying developmental and mental health profilesXinhe Zhang, Jakob Grove, Yuanjun Gu, et al.
Cell|September 27, 2023
Influence of autozygosity on common disease risk across the phenotypic spectrumDaniel S Malawsky, Eva van Walree, Benjamin M Jacobs, et al.
The New England Journal of Medicine|April 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and IrelandCaroline F Wright, Patrick Campbell, Ruth Y Eberhardt, et al.
Clinical Genetics|March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndromeAlistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
Nature Genetics|August 17, 2023
Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypesVarun Warrier, Eva-Maria Stauffer, Qin Qin Huang, et al.
Human Molecular Genetics|October 11, 2017
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disabilityBenjamin Davies, Laurence A Brown, Ondrej Cais, et al.
Wellcome Open Research|January 22, 2025
Exome sequencing of UK birth cohortsMahmoud Koko, Laurie Fabian, Iaroslav Popov, et al.
Genome Medicine|July 19, 2022
Recommendations for clinical interpretation of variants found in non-coding regions of the genomeJamie M Ellingford, Joo Wook Ahn, Richard D Bagnall, et al.
Human Molecular Genetics|January 28, 2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosisHilary C Martin, Grace E Kim, Alistair T Pagnamenta, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
Pageof 7

Showing results (41-50 of 68) with videos related to

Sort By:
Pageof 7
Medrxiv : the Preprint Server for Health Sciences|August 12, 2024
An axis of genetic heterogeneity in autism is indexed by age at diagnosis and is associated with varying developmental and mental health profilesXinhe Zhang, Jakob Grove, Yuanjun Gu, et al.
Cell|September 27, 2023
Influence of autozygosity on common disease risk across the phenotypic spectrumDaniel S Malawsky, Eva van Walree, Benjamin M Jacobs, et al.
The New England Journal of Medicine|April 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and IrelandCaroline F Wright, Patrick Campbell, Ruth Y Eberhardt, et al.
Clinical Genetics|March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndromeAlistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
Nature Genetics|August 17, 2023
Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypesVarun Warrier, Eva-Maria Stauffer, Qin Qin Huang, et al.
Human Molecular Genetics|October 11, 2017
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disabilityBenjamin Davies, Laurence A Brown, Ondrej Cais, et al.
Wellcome Open Research|January 22, 2025
Exome sequencing of UK birth cohortsMahmoud Koko, Laurie Fabian, Iaroslav Popov, et al.
Genome Medicine|July 19, 2022
Recommendations for clinical interpretation of variants found in non-coding regions of the genomeJamie M Ellingford, Joo Wook Ahn, Richard D Bagnall, et al.
Human Molecular Genetics|January 28, 2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosisHilary C Martin, Grace E Kim, Alistair T Pagnamenta, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
Pageof 7