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Showing results (201-210 of 234) with videos related to

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Plos Medicine|August 3, 2018
A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve healthMuin J Khoury, W Gregory Feero, David A Chambers, et al.
Plos Medicine|August 17, 2018
Correction: A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve healthMuin J Khoury, W Gregory Feero, David A Chambers, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|July 29, 2008
Folate-related gene polymorphisms as risk factors for cleft lip and cleft palateJames L Mills, Anne M Molloy, Anne Parle-McDermott, et al.
BMC Medical Genetics|October 9, 2014
Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defectsFaith Pangilinan, Anne M Molloy, James L Mills, et al.
Human Genetics|September 18, 2016
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathwaysErin M Hagen, Robert J Sicko, Denise M Kay, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 28, 2012
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfectaWayne A Cabral, Aileen M Barnes, Adebowale Adeyemo, et al.
American Journal of Medical Genetics. Part A|December 15, 2015
Rare copy number variants implicated in posterior urethral valvesNansi S Boghossian, Robert J Sicko, Denise M Kay, et al.
Communications Biology|April 28, 2023
The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years agoEdmund Gilbert, Heather Zurel, Margaret E MacMillan, et al.
NPJ Genomic Medicine|February 27, 2018
Clinical testing of <i>BRCA1</i> and <i>BRCA2</i>: a worldwide snapshot of technological practicesAmanda Ewart Toland, Andrea Forman, Fergus J Couch, et al.
American Journal of Medical Genetics. Part A|February 2, 2022
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor geneFaith Pangilinan, David Watkins, David Bernard, et al.
Pageof 24

Showing results (201-210 of 234) with videos related to

Sort By:
Pageof 24
Plos Medicine|August 3, 2018
A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve healthMuin J Khoury, W Gregory Feero, David A Chambers, et al.
Plos Medicine|August 17, 2018
Correction: A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve healthMuin J Khoury, W Gregory Feero, David A Chambers, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|July 29, 2008
Folate-related gene polymorphisms as risk factors for cleft lip and cleft palateJames L Mills, Anne M Molloy, Anne Parle-McDermott, et al.
BMC Medical Genetics|October 9, 2014
Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defectsFaith Pangilinan, Anne M Molloy, James L Mills, et al.
Human Genetics|September 18, 2016
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathwaysErin M Hagen, Robert J Sicko, Denise M Kay, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 28, 2012
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfectaWayne A Cabral, Aileen M Barnes, Adebowale Adeyemo, et al.
American Journal of Medical Genetics. Part A|December 15, 2015
Rare copy number variants implicated in posterior urethral valvesNansi S Boghossian, Robert J Sicko, Denise M Kay, et al.
Communications Biology|April 28, 2023
The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years agoEdmund Gilbert, Heather Zurel, Margaret E MacMillan, et al.
NPJ Genomic Medicine|February 27, 2018
Clinical testing of <i>BRCA1</i> and <i>BRCA2</i>: a worldwide snapshot of technological practicesAmanda Ewart Toland, Andrea Forman, Fergus J Couch, et al.
American Journal of Medical Genetics. Part A|February 2, 2022
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor geneFaith Pangilinan, David Watkins, David Bernard, et al.
Pageof 24