相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79
Atteeq Ur Rehman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene
Ludovica Volpi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Exome sequencing identifies the cause of a mendelian disorder
Sarah B. Ng et al.
NATURE GENETICS (2010)
Assignment of the locus for arachnomelia syndrome to bovine chromosome 23 in Simmental cattle
J. Buitkamp et al.
ANIMAL GENETICS (2009)
Arachnomelia in Brown Swiss cattle maps to chromosome 5
Cord Drogemueller et al.
MAMMALIAN GENOME (2009)
Mutation discovery in the mouse using genetically guided array capture and resequencing
Mark D'Ascenzo et al.
MAMMALIAN GENOME (2009)
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B. Ng et al.
NATURE (2009)
The Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution
Christine G. Elsik et al.
SCIENCE (2009)
Syndrome of arachnomelia in Simmental cattle
Johannes Buitkamp et al.
BMC VETERINARY RESEARCH (2008)
Accurate whole human genome sequencing using reversible terminator chemistry
David R. Bentley et al.
NATURE (2008)
Genome-wide in situ exon capture for selective resequencing
Emily Hodges et al.
NATURE GENETICS (2007)
Microarray-based genomic selection for high-throughput resequencing
David T. Okou et al.
NATURE METHODS (2007)
Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency
MZ Seidahmed et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Bovine model of marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1
AC Singleton et al.
HUMAN MUTATION (2005)
Arachnomelia in four Italian brown calves
S Testoni et al.
VETERINARY RECORD (2004)