Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1.
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Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach.Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing.Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.
P2860
Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1.
description
2015 nî lūn-bûn
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name
Use of targeted next-generatio ...... vel de novo mutation of EFNB1.
@en
Use of targeted next-generatio ...... vel de novo mutation of EFNB1.
@nl
type
label
Use of targeted next-generatio ...... vel de novo mutation of EFNB1.
@en
Use of targeted next-generatio ...... vel de novo mutation of EFNB1.
@nl
prefLabel
Use of targeted next-generatio ...... vel de novo mutation of EFNB1.
@en
Use of targeted next-generatio ...... vel de novo mutation of EFNB1.
@nl
P2093
P2860
P356
P1433
P1476
Use of targeted next-generatio ...... vel de novo mutation of EFNB1.
@en
P2093
Kazuaki Shimoji
Keiko Shimojima
Naru Igarashi
Noriko Sangu
Shinichi Niijima
Toshiyuki Yamamoto
Yuko Sakamoto
P2860
P356
10.1111/CGA.12123
P577
2015-07-24T00:00:00Z