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Birth Defects Research
|
March 11, 2022
Exome sequencing identifies variants in infants with sacral agenesis
Georgia Pitsava, Marcia L Feldkamp, Nathan Pankratz, et al.
HGG Advances
|
September 4, 2023
Rare variants in <i>CAPN2</i> increase risk for isolated hypoplastic left heart syndrome
Elizabeth E Blue, Janson J White, Michael K Dush, et al.
Journal of Medical Genetics
|
February 4, 2015
BRCA1 Circos: a visualisation resource for functional analysis of missense variants
Ankita Jhuraney, Aneliya Velkova, Randall C Johnson, et al.
Birth Defects Research
|
July 23, 2019
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data
Mary M Jenkins, Lynn M Almli, Faith Pangilinan, et al.
Nature
|
October 29, 2020
Strategic vision for improving human health at The Forefront of Genomics
Eric D Green, Chris Gunter, Leslie G Biesecker, et al.
Birth Defects Research
|
April 30, 2025
Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study
Tonia C Carter, Denise M Kay, Faith Pangilinan, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
April 12, 2017
Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach
Goli Samimi, Marcus Q Bernardini, Lawrence C Brody, et al.
American Journal of Medical Genetics. Part A
|
March 21, 2023
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants
Pagna Sok, Aniko Sabo, Lynn M Almli, et al.
The American Journal of Clinical Nutrition
|
May 20, 2011
Biomarkers of folate status in NHANES: a roundtable summary
Elizabeth A Yetley, Christine M Pfeiffer, Karen W Phinney, et al.
The American Journal of Clinical Nutrition
|
May 20, 2011
Biomarkers of vitamin B-12 status in NHANES: a roundtable summary
Elizabeth A Yetley, Christine M Pfeiffer, Karen W Phinney, et al.
Page
of 24
Search research articles
Search
Showing results (221-230 of 234) with videos related to
Sort By:
Page
of 24
Birth Defects Research
|
March 11, 2022
Exome sequencing identifies variants in infants with sacral agenesis
Georgia Pitsava, Marcia L Feldkamp, Nathan Pankratz, et al.
HGG Advances
|
September 4, 2023
Rare variants in <i>CAPN2</i> increase risk for isolated hypoplastic left heart syndrome
Elizabeth E Blue, Janson J White, Michael K Dush, et al.
Journal of Medical Genetics
|
February 4, 2015
BRCA1 Circos: a visualisation resource for functional analysis of missense variants
Ankita Jhuraney, Aneliya Velkova, Randall C Johnson, et al.
Birth Defects Research
|
July 23, 2019
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data
Mary M Jenkins, Lynn M Almli, Faith Pangilinan, et al.
Nature
|
October 29, 2020
Strategic vision for improving human health at The Forefront of Genomics
Eric D Green, Chris Gunter, Leslie G Biesecker, et al.
Birth Defects Research
|
April 30, 2025
Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study
Tonia C Carter, Denise M Kay, Faith Pangilinan, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
April 12, 2017
Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach
Goli Samimi, Marcus Q Bernardini, Lawrence C Brody, et al.
American Journal of Medical Genetics. Part A
|
March 21, 2023
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants
Pagna Sok, Aniko Sabo, Lynn M Almli, et al.
The American Journal of Clinical Nutrition
|
May 20, 2011
Biomarkers of folate status in NHANES: a roundtable summary
Elizabeth A Yetley, Christine M Pfeiffer, Karen W Phinney, et al.
The American Journal of Clinical Nutrition
|
May 20, 2011
Biomarkers of vitamin B-12 status in NHANES: a roundtable summary
Elizabeth A Yetley, Christine M Pfeiffer, Karen W Phinney, et al.
Page
of 24