about
Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactorsGenetics of inflammatory bowel disease from multifactorial to monogenic formsFunctional Toxicogenomic Profiling Expands Insight into Modulators of Formaldehyde Toxicity in YeastThe SKIV2L RNA exosome limits activation of the RIG-I-like receptorsExome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With ImmunodeficiThe twisting tale of woolly hair: a trait with many causes.Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.Trichohepatoenteric Syndrome or Syndromic Diarrhea-Report of Three Members in a Family, First Report from Iran.Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literatureThe localisation of the apical Par/Cdc42 polarity module is specifically affected in microvillus inclusion disease.Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report.The RNA exosome and RNA exosome-linked disease.Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea.Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case
P2860
Q27000489-28502913-045A-410E-B0FD-DCDF340B9AB9Q28081673-35D38203-F7BE-478B-BECE-55730E3F43E4Q28821268-C730A2E8-FBC1-4986-AC85-7E7BF160ADD6Q34071054-B1E38F17-1140-49BC-9457-9A3DE2552531Q36307792-85BC464E-DC92-4BC4-A2C0-3775BDE0B62FQ36663991-31C301BD-8557-43BC-8DF3-97EC47B9723FQ38308469-E5601B66-800B-4465-9E10-B84575E020E0Q38481739-00D051F8-E116-4E2F-819D-CFD20302097CQ40118080-528B88CA-D273-4723-BA18-93197402E9E8Q41700183-CB3278ED-7DC8-4AC7-8FFF-159C4B600A91Q42484529-F8471566-815E-46A1-B7F9-B97E06A6CDC1Q47133393-01AAC4AD-9FEB-463C-BD2F-BFEC04197477Q47593634-D7C5F0BE-AE03-4A9E-9B2D-299EEFF8A7B6Q50061368-4C48DC64-AC7C-4031-91D9-726046746904Q52730158-E2C1F66A-C24D-4BBB-9711-33F07310490AQ54957612-C97DF299-C158-4AD2-A8DB-BFB3F25DD033Q58594827-4B1865BA-909D-4FEB-BE76-211295EA7904
P2860
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունվարին հրատարակված գիտական հոդված
@hy
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
name
Syndromic diarrhea/Tricho-hepato-enteric syndrome
@ast
Syndromic diarrhea/Tricho-hepato-enteric syndrome
@en
Syndromic diarrhea/Tricho-hepato-enteric syndrome
@nl
type
label
Syndromic diarrhea/Tricho-hepato-enteric syndrome
@ast
Syndromic diarrhea/Tricho-hepato-enteric syndrome
@en
Syndromic diarrhea/Tricho-hepato-enteric syndrome
@nl
prefLabel
Syndromic diarrhea/Tricho-hepato-enteric syndrome
@ast
Syndromic diarrhea/Tricho-hepato-enteric syndrome
@en
Syndromic diarrhea/Tricho-hepato-enteric syndrome
@nl
P2093
P2860
P921
P356
P1476
Syndromic diarrhea/Tricho-hepato-enteric syndrome
@en
P2093
Catherine Badens
Christine Martinez-Vinson
Olivier Goulet
P2860
P2888
P356
10.1186/1750-1172-8-5
P407
P5008
P577
2013-01-09T00:00:00Z
P5875
P6179
1016074064