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Blood
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November 3, 2011
Ribosomal protein gene deletions in Diamond-Blackfan anemia
Jason E Farrar, Adrianna Vlachos, Eva Atsidaftos, et al.
Molecular Genetics and Metabolism
|
January 24, 2012
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering
Thomas C Markello, Ted Han, Hannah Carlson-Donohoe, et al.
The Journal of Investigative Dermatology
|
June 17, 2011
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia
Andrew R Cullinane, Thierry Vilboux, Kevin O'Brien, et al.
Molecular Genetics and Metabolism
|
January 27, 2012
Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function
Thomas C Markello, Hannah Carlson-Donohoe, Murat Sincan, et al.
The New England Journal of Medicine
|
February 4, 2011
NT5E mutations and arterial calcifications
Cynthia St Hilaire, Shira G Ziegler, Thomas C Markello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
William A Gahl, Thomas C Markello, Camilo Toro, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 6) with videos related to
Sort By:
Page
of 1
Blood
|
November 3, 2011
Ribosomal protein gene deletions in Diamond-Blackfan anemia
Jason E Farrar, Adrianna Vlachos, Eva Atsidaftos, et al.
Molecular Genetics and Metabolism
|
January 24, 2012
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering
Thomas C Markello, Ted Han, Hannah Carlson-Donohoe, et al.
The Journal of Investigative Dermatology
|
June 17, 2011
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia
Andrew R Cullinane, Thierry Vilboux, Kevin O'Brien, et al.
Molecular Genetics and Metabolism
|
January 27, 2012
Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function
Thomas C Markello, Hannah Carlson-Donohoe, Murat Sincan, et al.
The New England Journal of Medicine
|
February 4, 2011
NT5E mutations and arterial calcifications
Cynthia St Hilaire, Shira G Ziegler, Thomas C Markello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
William A Gahl, Thomas C Markello, Camilo Toro, et al.
Page
of 1