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Scientific Reports
|
September 27, 2016
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome
Ivan Duran, S Paige Taylor, Wenjuan Zhang, et al.
IEEE Transactions on Bio-Medical Engineering
|
February 5, 2019
Severe Dengue Prognosis Using Human Genome Data and Machine Learning
Caio Davi, Andre Pastor, Thiego Oliveira, et al.
Genetic Epidemiology
|
December 5, 2018
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts
Emmi Helle, Aldo Córdova-Palomera, Tiina Ojala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 5, 2018
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology
Amanda Moccia, Anshika Srivastava, Jennifer M Skidmore, et al.
Cilia
|
April 13, 2017
Mutations in IFT-A satellite core component genes <i>IFT43</i> and <i>IFT121</i> produce short rib polydactyly syndrome with distinctive campomelia
Ivan Duran, S Paige Taylor, Wenjuan Zhang, et al.
Human Biology
|
August 24, 2005
Balinese Y-chromosome perspective on the peopling of Indonesia: genetic contributions from pre-neolithic hunter-gatherers, Austronesian farmers, and Indian traders
Tatiana M Karafet, J S Lansing, Alan J Redd, et al.
Nature
|
August 18, 2009
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B Ng, Emily H Turner, Peggy D Robertson, et al.
Human Mutation
|
October 26, 2017
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
Wenjuan Zhang, S Paige Taylor, Hayley A Ennis, et al.
Ebiomedicine
|
November 26, 2020
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia
Maya Barad, Fabiana Csukasi, Michaela Bosakova, et al.
Frontiers in Immunology
|
October 4, 2024
Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a <i>TP63</i> variant and severe persistent T cell lymphopenia
Alevtina Gall, Marita Bosticardo, Stacey Ma, et al.
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Search research articles
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Showing results (21-30 of 53) with videos related to
Sort By:
Page
of 6
Scientific Reports
|
September 27, 2016
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome
Ivan Duran, S Paige Taylor, Wenjuan Zhang, et al.
IEEE Transactions on Bio-Medical Engineering
|
February 5, 2019
Severe Dengue Prognosis Using Human Genome Data and Machine Learning
Caio Davi, Andre Pastor, Thiego Oliveira, et al.
Genetic Epidemiology
|
December 5, 2018
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts
Emmi Helle, Aldo Córdova-Palomera, Tiina Ojala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 5, 2018
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology
Amanda Moccia, Anshika Srivastava, Jennifer M Skidmore, et al.
Cilia
|
April 13, 2017
Mutations in IFT-A satellite core component genes <i>IFT43</i> and <i>IFT121</i> produce short rib polydactyly syndrome with distinctive campomelia
Ivan Duran, S Paige Taylor, Wenjuan Zhang, et al.
Human Biology
|
August 24, 2005
Balinese Y-chromosome perspective on the peopling of Indonesia: genetic contributions from pre-neolithic hunter-gatherers, Austronesian farmers, and Indian traders
Tatiana M Karafet, J S Lansing, Alan J Redd, et al.
Nature
|
August 18, 2009
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B Ng, Emily H Turner, Peggy D Robertson, et al.
Human Mutation
|
October 26, 2017
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
Wenjuan Zhang, S Paige Taylor, Hayley A Ennis, et al.
Ebiomedicine
|
November 26, 2020
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia
Maya Barad, Fabiana Csukasi, Michaela Bosakova, et al.
Frontiers in Immunology
|
October 4, 2024
Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a <i>TP63</i> variant and severe persistent T cell lymphopenia
Alevtina Gall, Marita Bosticardo, Stacey Ma, et al.
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of 6