Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.
about
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.A lot of nexts: Next-generation sequencing, databases, and neurologists.Next-generation sequencing still needs our generation's clinicians.Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.Methodology for Y Chromosome Capture: A complete genome sequence of Y chromosome using flow cytometry, laser microdissection and magnetic streptavidin-beads.The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients
P2860
Q33558590-0CB3B299-3035-4096-AD10-AF7011C8E50DQ36275198-57F7E603-F8EB-492D-9291-37AD654FA769Q36729148-09E68915-D84F-4C78-95BD-A0DA09D2CD89Q36729157-F28CB202-063C-469E-9FF3-795D5DB60667Q39783164-1BDA6221-BF8B-44E5-8443-CC909A5950DDQ41590349-72027220-60D3-4FB2-845D-2459AD4EE452Q47119978-D1BF2CFA-15E2-414E-9E5D-AF90712EFC25Q47121111-772C9B42-5982-4408-A1B1-467713D0C48DQ47974869-47FAFC2A-FF61-4425-B136-7AAA50217340Q48101181-F56AC036-B771-474D-99DE-DD63B300AFC7Q51553063-9D0E740A-B371-4F84-9F0F-CFC66A580F88Q55315472-DEE45817-A746-4B4E-ACE5-0A4F4BA1BB9BQ58782428-46FFB432-A35C-463F-ABE3-A1DD94A4BF2E
P2860
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Expanding genotype/phenotype o ...... prehensive target capture/NGS.
@ast
Expanding genotype/phenotype o ...... prehensive target capture/NGS.
@en
type
label
Expanding genotype/phenotype o ...... prehensive target capture/NGS.
@ast
Expanding genotype/phenotype o ...... prehensive target capture/NGS.
@en
prefLabel
Expanding genotype/phenotype o ...... prehensive target capture/NGS.
@ast
Expanding genotype/phenotype o ...... prehensive target capture/NGS.
@en
P2093
P2860
P1433
P1476
Expanding genotype/phenotype o ...... prehensive target capture/NGS.
@en
P2093
Ching Wan Lam
Hsien-Da Huang
Lee-Jun Wong
Thy-Sheng Lin
Victor Wei Zhang
Wan-Tzu Chen
Wen-Chen Liang
Ya-Yun Hsu
P2860
P356
10.1212/NXG.0000000000000015
P577
2015-08-13T00:00:00Z