Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
about
NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.
P2860
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
Syndrome disintegration: Exome ...... occurrence of multiple events.
@en
Syndrome disintegration: Exome ...... occurrence of multiple events.
@nl
type
label
Syndrome disintegration: Exome ...... occurrence of multiple events.
@en
Syndrome disintegration: Exome ...... occurrence of multiple events.
@nl
prefLabel
Syndrome disintegration: Exome ...... occurrence of multiple events.
@en
Syndrome disintegration: Exome ...... occurrence of multiple events.
@nl
P2093
P2860
P50
P356
P1476
Syndrome disintegration: Exome ...... occurrence of multiple events.
@en
P2093
Amanda Smith
Christine M Armour
Dennis E Bulman
FORGE Canada Consortium
Jacek Majewski
Mohnish Suri
Raoul Hennekam
Sarah Sawyer
Taila Hartley
P2860
P304
P356
10.1002/AJMG.A.37684
P407
P577
2016-05-02T00:00:00Z