Current Protocols in Human Genetics
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scholarly journals Diagnosis of Fanconi Anemia by Diepoxybutane Analysis

2015 ◽  
pp. 8.7.1-8.7.17 ◽  
Author(s):  
Arleen D. Auerbach
Keyword(s):  
Fanconi Anemia

scholarly journals Improved Protocols for Illumina Sequencing

2014 ◽  
pp. 18.2.1-18.2.42 ◽  
Author(s):  
Iraad F. Bronner ◽  
Michael A. Quail ◽  
Daniel J. Turner ◽  
Harold Swerdlow
Keyword(s):  
Illumina Sequencing

scholarly journals Analyzing Copy Number Variation Using SNP Array Data: Protocols for Calling CNV and Association Tests

2013 ◽  
pp. 1.27.1-1.27.15 ◽  
Author(s):  
Chiao-Feng Lin ◽  
Adam C. Naj ◽  
Li-San Wang
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Snp Array ◽  
Array Data ◽  
Association Tests ◽  
Number Variation

scholarly journals Genome-Scale Sequencing to Identify Genes Involved in Mendelian Disorders

2013 ◽  
pp. 6.13.1-6.13.19 ◽  
Author(s):  
Thomas C. Markello ◽  
David R. Adams
Keyword(s):  
Mendelian Disorders ◽  
Genome Scale

Diagnosing Lysosomal Storage Disorders: Mucopolysaccharidosis Type II

2013 ◽  
pp. 17.14.1-17.14.9 ◽  
Author(s):  
Britt A. Johnson ◽  
Otto P. van Diggelen ◽  
Angela Dajnoki ◽  
Olaf A. Bodamer
Keyword(s):  
Lysosomal Storage Disorders ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Lysosomal Storage ◽  
Mucopolysaccharidosis Type Ii ◽  
Storage Disorders

scholarly journals High-Throughput Multiplex Sequencing of miRNA

2012 ◽  
Author(s):  
Francois Vigneault ◽  
Dmitry Ter-Ovanesyan ◽  
Shahar Alon ◽  
Seda Eminaga ◽  
Danos C. Christodoulou ◽  
...  
Keyword(s):  
High Throughput ◽  
Multiplex Sequencing

Biochemical Genetics

2012 ◽  
Author(s):  
J. Daniel Sharer ◽  
Bruce R. Korf
Keyword(s):  
Biochemical Genetics

High-Throughput Sequencing

2012 ◽  
Author(s):  
Douglas R. Smith
Keyword(s):  
High Throughput ◽  
High Throughput Sequencing

scholarly journals Preface

2012 ◽  
Author(s):  
Jonathan L. Haines ◽  
Bruce R. Korf ◽  
Cynthia C. Morton ◽  
Christine E. Seidman ◽  
J.G. Seidman ◽  
...  
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