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Christine Stevens

Showing results (41-50 of 56) with videos related to

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Nature Genetics|February 12, 2013
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencingAndrew Kirby, Andreas Gnirke, David B Jaffe, et al.
Neuron|January 29, 2013
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disordersElaine T Lim, Soumya Raychaudhuri, Stephan J Sanders, et al.
American Journal of Human Genetics|August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomaliesChelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
Nature|February 4, 2021
Author Correction: A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Nature Communications|September 14, 2016
Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitisManuel A Rivas, Daniel Graham, Patrick Sulem, et al.
Nature|May 29, 2020
A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Integrating 730,947 exome sequences with clinical literature improves gene discoveryJeremy Guez, Julia K Goodrich, Mikhail A Moldovan, et al.
Plos Genetics|May 31, 2019
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Plos Genetics|May 26, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Nature|April 13, 2012
Patterns and rates of exonic de novo mutations in autism spectrum disordersBenjamin M Neale, Yan Kou, Li Liu, et al.
Pageof 6

Showing results (41-50 of 56) with videos related to

Sort By:
Pageof 6
Nature Genetics|February 12, 2013
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencingAndrew Kirby, Andreas Gnirke, David B Jaffe, et al.
Neuron|January 29, 2013
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disordersElaine T Lim, Soumya Raychaudhuri, Stephan J Sanders, et al.
American Journal of Human Genetics|August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomaliesChelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
Nature|February 4, 2021
Author Correction: A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Nature Communications|September 14, 2016
Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitisManuel A Rivas, Daniel Graham, Patrick Sulem, et al.
Nature|May 29, 2020
A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Integrating 730,947 exome sequences with clinical literature improves gene discoveryJeremy Guez, Julia K Goodrich, Mikhail A Moldovan, et al.
Plos Genetics|May 31, 2019
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Plos Genetics|May 26, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Nature|April 13, 2012
Patterns and rates of exonic de novo mutations in autism spectrum disordersBenjamin M Neale, Yan Kou, Li Liu, et al.
Pageof 6