Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
about
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.
P2860
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Autosomal recessive mutations ...... rward and reverse phenotyping.
@en
type
label
Autosomal recessive mutations ...... rward and reverse phenotyping.
@en
prefLabel
Autosomal recessive mutations ...... rward and reverse phenotyping.
@en
P2093
P2860
P50
P356
P1433
P1476
Autosomal recessive mutations ...... rward and reverse phenotyping.
@en
P2093
A Masurel-Paulet
C L Beaulieu
Care4Rare Canada Consortium
H Najmabadi
J-B Rivière
K M Boycott
P2860
P356
10.1111/CGE.12793
P577
2016-04-22T00:00:00Z