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Orphanet Journal of Rare Diseases
|
June 26, 2019
Genome sequencing and implications for rare disorders
Jennifer E Posey
Cell Metabolism
|
February 8, 2023
Metabolic individuality: Limitations, challenges, and potential for clinical utility
Sarah H Elsea, Jennifer E Posey
Diabetes Care
|
February 8, 2024
Atypical Diabetes: What Have We Learned and What Does the Future Hold?
Stephen I Stone, Ashok Balasubramanyam, Jennifer E Posey
Nature Reviews. Genetics
|
April 11, 2024
Human embryonic genetic mosaicism and its effects on development and disease
Sarah M Waldvogel, Jennifer E Posey, Margaret A Goodell
Nucleic Acids Research
|
April 1, 2008
Understanding how the V(D)J recombinase catalyzes transesterification: distinctions between DNA cleavage and transposition
Catherine P Lu, Jennifer E Posey, David B Roth
Plos Biology
|
November 16, 2006
Target DNA structure plays a critical role in RAG transposition
Jennifer E Posey, Malgorzata J Pytlos, Richard R Sinden, et al.
Expert Review of Molecular Diagnostics
|
September 21, 2020
Clinical genomics and contextualizing genome variation in the diagnostic laboratory
James R Lupski, Pengfei Liu, Pawel Stankiewicz, et al.
American Journal of Medical Genetics. Part A
|
November 15, 2015
Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive
Jennifer E Posey, Nikki Mohrbacher, Janice L Smith, et al.
Hormone Research in Paediatrics
|
May 28, 2024
Variants of Unknown Significance in Maturity-Onset Diabetes of the Young: High Rate of Conundrum Resolution via Variants of Unknown Significance Reanalysis
Guido Alarcon, Glenn A Maston, Carol A Hoffman, et al.
Pediatric Neurology
|
October 25, 2016
Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance
Jennifer E Posey, Rebecca Martinez, Jeremy E Lankford, et al.
Page
of 20
Search research articles
Search
Showing results (1-10 of 195) with videos related to
Sort By:
Page
of 20
Orphanet Journal of Rare Diseases
|
June 26, 2019
Genome sequencing and implications for rare disorders
Jennifer E Posey
Cell Metabolism
|
February 8, 2023
Metabolic individuality: Limitations, challenges, and potential for clinical utility
Sarah H Elsea, Jennifer E Posey
Diabetes Care
|
February 8, 2024
Atypical Diabetes: What Have We Learned and What Does the Future Hold?
Stephen I Stone, Ashok Balasubramanyam, Jennifer E Posey
Nature Reviews. Genetics
|
April 11, 2024
Human embryonic genetic mosaicism and its effects on development and disease
Sarah M Waldvogel, Jennifer E Posey, Margaret A Goodell
Nucleic Acids Research
|
April 1, 2008
Understanding how the V(D)J recombinase catalyzes transesterification: distinctions between DNA cleavage and transposition
Catherine P Lu, Jennifer E Posey, David B Roth
Plos Biology
|
November 16, 2006
Target DNA structure plays a critical role in RAG transposition
Jennifer E Posey, Malgorzata J Pytlos, Richard R Sinden, et al.
Expert Review of Molecular Diagnostics
|
September 21, 2020
Clinical genomics and contextualizing genome variation in the diagnostic laboratory
James R Lupski, Pengfei Liu, Pawel Stankiewicz, et al.
American Journal of Medical Genetics. Part A
|
November 15, 2015
Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive
Jennifer E Posey, Nikki Mohrbacher, Janice L Smith, et al.
Hormone Research in Paediatrics
|
May 28, 2024
Variants of Unknown Significance in Maturity-Onset Diabetes of the Young: High Rate of Conundrum Resolution via Variants of Unknown Significance Reanalysis
Guido Alarcon, Glenn A Maston, Carol A Hoffman, et al.
Pediatric Neurology
|
October 25, 2016
Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance
Jennifer E Posey, Rebecca Martinez, Jeremy E Lankford, et al.
Page
of 20