X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

Show full item record



Permalink

http://hdl.handle.net/10138/162350

Citation

Philips , A K , Siren , A , Avela , K , Somer , M , Peippo , M , Ahvenainen , M , Doagu , F , Arvio , M , Kaariainen , H , Van Esch , H , Froyen , G , Haas , S A , Hu , H , Kalscheuer , V M & Jarvela , I 2014 , ' X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes ' , Orphanet journal of rare diseases , vol. 9 , 49 . https://doi.org/10.1186/1750-1172-9-49

Title: X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes
Author: Philips, Anju K.; Siren, Auli; Avela, Kristiina; Somer, Mirja; Peippo, Maarit; Ahvenainen, Minna; Doagu, Fatma; Arvio, Maria; Kaariainen, Helena; Van Esch, Hilde; Froyen, Guy; Haas, Stefan A.; Hu, Hao; Kalscheuer, Vera M.; Jarvela, Irma
Contributor: University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Haartman Institute (-2014)
Date: 2014-04-11
Language: eng
Number of pages: 13
Belongs to series: Orphanet journal of rare diseases
ISSN: 1750-1172
URI: http://hdl.handle.net/10138/162350
Subject: LINKED MENTAL-RETARDATION
THYROID-HORMONE TRANSPORTER
HERNDON-DUDLEY-SYNDROME
GENE
PROTEIN
GRIA3
RECEPTOR
IDENTIFICATION
DUPLICATIONS
CANDIDATE
3111 Biomedicine
Rights:


Files in this item

Total number of downloads: Loading...

Files Size Format View
1750_1172_9_49.pdf 2.967Mb PDF View/Open

This item appears in the following Collection(s)

Show full item record