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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 30, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
Jessica X Chong, Seth I Berger, Samantha Baxter, et al.
Journal of Genetic Counseling
|
April 30, 2014
Disclosure of genetic research results to members of a founder population
Rebecca L Anderson, Kathleen Murray, Jessica X Chong, et al.
Nature Genetics
|
September 25, 2012
Estimating the human mutation rate using autozygosity in a founder population
Catarina D Campbell, Jessica X Chong, Maika Malig, et al.
HGG Advances
|
May 7, 2025
The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans
Minna Ampuja, Sabina Ericsson, Ilkka Paatero, et al.
American Journal of Human Genetics
|
August 5, 2014
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results
Holly K Tabor, Paul L Auer, Seema M Jamal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2015
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features
Jessica X Chong, Joon-Ho Yu, Peter Lorentzen, et al.
Human Molecular Genetics
|
January 8, 2011
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
Minal Çalışkan, Jessica X Chong, Lawrence Uricchio, et al.
Current Protocols in Human Genetics
|
October 19, 2017
Matchmaker Exchange
Nara L M Sobreira, Harindra Arachchi, Orion J Buske, 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.
Plos Genetics
|
August 19, 2015
Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis
Mary J Emond, Tin Louie, Julia Emerson, et al.
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Search research articles
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Showing results (21-30 of 94) with videos related to
Sort By:
Page
of 10
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 30, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
Jessica X Chong, Seth I Berger, Samantha Baxter, et al.
Journal of Genetic Counseling
|
April 30, 2014
Disclosure of genetic research results to members of a founder population
Rebecca L Anderson, Kathleen Murray, Jessica X Chong, et al.
Nature Genetics
|
September 25, 2012
Estimating the human mutation rate using autozygosity in a founder population
Catarina D Campbell, Jessica X Chong, Maika Malig, et al.
HGG Advances
|
May 7, 2025
The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans
Minna Ampuja, Sabina Ericsson, Ilkka Paatero, et al.
American Journal of Human Genetics
|
August 5, 2014
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results
Holly K Tabor, Paul L Auer, Seema M Jamal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2015
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features
Jessica X Chong, Joon-Ho Yu, Peter Lorentzen, et al.
Human Molecular Genetics
|
January 8, 2011
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
Minal Çalışkan, Jessica X Chong, Lawrence Uricchio, et al.
Current Protocols in Human Genetics
|
October 19, 2017
Matchmaker Exchange
Nara L M Sobreira, Harindra Arachchi, Orion J Buske, 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.
Plos Genetics
|
August 19, 2015
Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis
Mary J Emond, Tin Louie, Julia Emerson, et al.
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of 10