Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.
about
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypesEstablishment and Dysfunction of the Blood-Brain Barrier.Structure and function of thyroid hormone plasma membrane transporters.Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.Three novel mutations of the MCT8 (SLC16A2) gene: individual and temporal variations of endocrinological and radiological features.Few Amino Acid Exchanges Expand the Substrate Spectrum of Monocarboxylate Transporter 10
P2860
Q33617351-68B4BF39-6ED1-4D92-8CB8-0B25EE7EC766Q36306827-16604A65-0BE0-4D49-8A2E-97460E2200F5Q38299941-33082991-134A-44ED-84B3-E416430E7735Q38846368-FC5AD6AA-0BEA-4FE2-9BAE-6AE12AE949BBQ40117585-41470D76-2E9B-4187-AB2E-C2AB19AB1344Q41164503-8461E07B-D594-4740-9DBC-6CC3A637CB32Q42276741-2488A6A7-FA5D-450F-A666-06C959C33D52
P2860
Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Relevance of different cellula ...... enotype-phenotype correlation.
@en
Relevance of different cellula ...... enotype-phenotype correlation.
@nl
type
label
Relevance of different cellula ...... enotype-phenotype correlation.
@en
Relevance of different cellula ...... enotype-phenotype correlation.
@nl
prefLabel
Relevance of different cellula ...... enotype-phenotype correlation.
@en
Relevance of different cellula ...... enotype-phenotype correlation.
@nl
P2093
P2860
P356
P1433
P1476
Relevance of different cellula ...... enotype-phenotype correlation.
@en
P2093
Angela F Brady
Aurélie Monnier
Catherine Vaurs-Barriere
Edith C H Friesema
Eléonore Eymard-Pierre
Giusseppe De Michele
Odile Boespflug-Tanguy
Renaud Touraine
Simone Kersseboom
Theo J Visser
P2860
P304
P356
10.1002/HUMU.22331
P577
2013-05-01T00:00:00Z