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。Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success
Vincent Timmerman et al.
Genes (2014)
A Review of Genetic Counseling for Charcot Marie Tooth Disease (CMT)
Carly E. Siskind et al.
JOURNAL OF GENETIC COUNSELING (2013)
Charcot-Marie-Tooth disease Genetic and clinical spectrum in a Spanish clinical series
Rafael Sivera et al.
NEUROLOGY (2013)
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy
James R. Lupski et al.
GENOME MEDICINE (2013)
Human Genome Sequencing in Health and Disease
Claudia Gonzaga-Jauregui et al.
ANNUAL REVIEW OF MEDICINE, VOL 63 (2012)
Cost-effective, high-throughput DNA sequencing libraries for multiplexed target capture
Nadin Rohland et al.
GENOME RESEARCH (2012)
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
Sinead M. Murphy et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)
Charcot-Marie-Tooth Disease Subtypes and Genetic Testing Strategies
Anita S. D. Saporta et al.
ANNALS OF NEUROLOGY (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
Fast and accurate long-read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2010)
Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review) Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation
J. D. England et al.
NEUROLOGY (2009)
Practice Parameter: The Evaluation of Distal Symmetric Polyneuropathy: The Role of Laboratory and Genetic Testing (An Evidence-Based Review)
J. D. England et al.
PM&R (2009)
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
C. Sue Richards et al.
GENETICS IN MEDICINE (2008)
A large genome center's improvements to the Illumina sequencing system
Michael A. Quail et al.
NATURE METHODS (2008)
17p duplicated Charcot-Marie-Tooth 1A - Characteristics of a new population
W Marques et al.
JOURNAL OF NEUROLOGY (2005)
Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for related peripheral neuropathies Charcot-Marie-Tooth disease and
GM Saifi et al.
JOURNAL OF INVESTIGATIVE MEDICINE (2003)
Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation
CF Boerkoel et al.
ANNALS OF NEUROLOGY (2002)
Measurement of locus copy number by hybridisation with amplifiable probes
JAL Armour et al.
NUCLEIC ACIDS RESEARCH (2000)
分享论文
