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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
November 27, 2014
Mosaicism and clinical genetics
Nancy B Spinner, Laura K Conlin
Molecular and Cellular Biology
|
December 6, 2006
The natural osmolyte trehalose is a positive regulator of the heat-induced activity of yeast heat shock transcription factor
Laura K Conlin, Hillary C M Nelson
Clinical Chemistry
|
May 12, 2023
Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing
Minjie Luo, Laura K Conlin, Ramakrishnan Rajagopalan
Clinics in Laboratory Medicine
|
November 29, 2011
Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations
Hutton M Kearney, Joseph B Kearney, Laura K Conlin
Genome Medicine
|
February 1, 2020
A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data
Ramakrishnan Rajagopalan, Jill R Murrell, Minjie Luo, et al.
Clinical Chemistry
|
January 3, 2025
Standardization of Genomic Nomenclature across a Diverse Ecosystem of Stakeholders: Evolution and Challenges
Laura K Conlin, Melissa J Landrum, Robert R Freimuth, et al.
Biochimica Et Biophysica Acta
|
October 27, 2007
Water structure in vitro and within Saccharomyces cerevisiae yeast cells under conditions of heat shock
Jennifer L Dashnau, Laura K Conlin, Hillary C M Nelson, et al.
Human Mutation
|
September 10, 2022
Long-read sequencing for molecular diagnostics in constitutional genetic disorders
Laura K Conlin, Erfan Aref-Eshghi, Deborah A McEldrew, et al.
Case Reports in Genetics
|
October 24, 2013
Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral blood
Amy L Shackelford, Laura K Conlin, Marybeth Hummel, et al.
Molecular Genetics & Genomic Medicine
|
June 2, 2016
Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR
Katsunori Fujiki, Katsuhiko Shirahige, Maninder Kaur, et al.
Page
of 9
Search research articles
Search
Showing results (1-10 of 85) with videos related to
Sort By:
Page
of 9
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
November 27, 2014
Mosaicism and clinical genetics
Nancy B Spinner, Laura K Conlin
Molecular and Cellular Biology
|
December 6, 2006
The natural osmolyte trehalose is a positive regulator of the heat-induced activity of yeast heat shock transcription factor
Laura K Conlin, Hillary C M Nelson
Clinical Chemistry
|
May 12, 2023
Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing
Minjie Luo, Laura K Conlin, Ramakrishnan Rajagopalan
Clinics in Laboratory Medicine
|
November 29, 2011
Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations
Hutton M Kearney, Joseph B Kearney, Laura K Conlin
Genome Medicine
|
February 1, 2020
A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data
Ramakrishnan Rajagopalan, Jill R Murrell, Minjie Luo, et al.
Clinical Chemistry
|
January 3, 2025
Standardization of Genomic Nomenclature across a Diverse Ecosystem of Stakeholders: Evolution and Challenges
Laura K Conlin, Melissa J Landrum, Robert R Freimuth, et al.
Biochimica Et Biophysica Acta
|
October 27, 2007
Water structure in vitro and within Saccharomyces cerevisiae yeast cells under conditions of heat shock
Jennifer L Dashnau, Laura K Conlin, Hillary C M Nelson, et al.
Human Mutation
|
September 10, 2022
Long-read sequencing for molecular diagnostics in constitutional genetic disorders
Laura K Conlin, Erfan Aref-Eshghi, Deborah A McEldrew, et al.
Case Reports in Genetics
|
October 24, 2013
Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral blood
Amy L Shackelford, Laura K Conlin, Marybeth Hummel, et al.
Molecular Genetics & Genomic Medicine
|
June 2, 2016
Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR
Katsunori Fujiki, Katsuhiko Shirahige, Maninder Kaur, et al.
Page
of 9