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Matthew E Hurles

Showing results (101-110 of 188) with videos related to

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American Journal of Human Genetics|March 24, 2015
Absence of heterozygosity due to template switching during replicative rearrangementsClaudia M B Carvalho, Rolph Pfundt, Daniel A King, et al.
Genome Biology|October 16, 2014
Deletions of chromosomal regulatory boundaries are associated with congenital diseaseJonas Ibn-Salem, Sebastian Köhler, Michael I Love, et al.
American Journal of Human Genetics|January 28, 2014
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsKathleen A Williamson, Joe Rainger, James A B Floyd, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 22, 2015
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defectLisa C A D'Alessandro, Saeed Al Turki, Ashok Kumar Manickaraj, et al.
Nature Genetics|June 14, 2011
Variation in genome-wide mutation rates within and between human familiesDonald F Conrad, Jonathan E M Keebler, Mark A DePristo, et al.
Nature Genetics|June 2, 2022
Genetic correlates of phenotypic heterogeneity in autismVarun Warrier, Xinhe Zhang, Patrick Reed, et al.
American Journal of Human Genetics|October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataStuart Aitken, Helen V Firth, Jeremy McRae, et al.
Nature|September 28, 2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disordersMari E K Niemi, Hilary C Martin, Daniel L Rice, et al.
Nature Genetics|May 25, 2023
The impact of rare protein coding genetic variation on adult cognitive functionChia-Yen Chen, Ruoyu Tian, Tian Ge, et al.
Nature Communications|October 13, 2019
Contribution of retrotransposition to developmental disordersEugene J Gardner, Elena Prigmore, Giuseppe Gallone, et al.
Pageof 19

Showing results (101-110 of 188) with videos related to

Sort By:
Pageof 19
American Journal of Human Genetics|March 24, 2015
Absence of heterozygosity due to template switching during replicative rearrangementsClaudia M B Carvalho, Rolph Pfundt, Daniel A King, et al.
Genome Biology|October 16, 2014
Deletions of chromosomal regulatory boundaries are associated with congenital diseaseJonas Ibn-Salem, Sebastian Köhler, Michael I Love, et al.
American Journal of Human Genetics|January 28, 2014
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsKathleen A Williamson, Joe Rainger, James A B Floyd, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 22, 2015
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defectLisa C A D'Alessandro, Saeed Al Turki, Ashok Kumar Manickaraj, et al.
Nature Genetics|June 14, 2011
Variation in genome-wide mutation rates within and between human familiesDonald F Conrad, Jonathan E M Keebler, Mark A DePristo, et al.
Nature Genetics|June 2, 2022
Genetic correlates of phenotypic heterogeneity in autismVarun Warrier, Xinhe Zhang, Patrick Reed, et al.
American Journal of Human Genetics|October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataStuart Aitken, Helen V Firth, Jeremy McRae, et al.
Nature|September 28, 2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disordersMari E K Niemi, Hilary C Martin, Daniel L Rice, et al.
Nature Genetics|May 25, 2023
The impact of rare protein coding genetic variation on adult cognitive functionChia-Yen Chen, Ruoyu Tian, Tian Ge, et al.
Nature Communications|October 13, 2019
Contribution of retrotransposition to developmental disordersEugene J Gardner, Elena Prigmore, Giuseppe Gallone, et al.
Pageof 19