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Results: 9

Related Articles by Review for PubMed (Select 22444670)

1.

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E, Smith H, Colomb V, Andre N, Hugot JP, Goulet O, Lacoste C, Sarles J, Royet J, Levy N, Badens C.

Am J Hum Genet. 2012 Apr 6;90(4):689-92. doi: 10.1016/j.ajhg.2012.02.009. Epub 2012 Mar 22.

2.

Syndromic diarrhea/Tricho-hepato-enteric syndrome.

Fabre A, Martinez-Vinson C, Goulet O, Badens C.

Orphanet J Rare Dis. 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. Review.

3.

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors.

Fabre A, Badens C.

Intractable Rare Dis Res. 2014 Feb;3(1):8-11. doi: 10.5582/irdr.3.8. Review.

4.

Syndromic (phenotypic) diarrhea in early infancy.

Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, C├ęzard JP.

Orphanet J Rare Dis. 2008 Feb 28;3:6. doi: 10.1186/1750-1172-3-6. Review.

5.

Syndromic and non-syndromic deafness, molecular aspects of Pendred syndrome and its reported mutations.

Shaukat S, Fatima Z, Zehra U, Waqar AB.

J Ayub Med Coll Abbottabad. 2003 Jul-Sep;15(3):59-64. Review.

PMID:
14727345
6.

Chronic enteropathy: molecular basis.

Ruemmele FM.

Nestle Nutr Workshop Ser Pediatr Program. 2007;59:73-85; discussion 85-8. Review.

PMID:
17245092
7.

Pathogenetics of the human SLC26 transporters.

Dawson PA, Markovich D.

Curr Med Chem. 2005;12(4):385-96. Review.

PMID:
15720248
8.

Infantile systemic hyalinosis presenting as intractable infantile diarrhea.

Al-Mubarak L, Al-Makadma A, Al-Khenaizan S.

Eur J Pediatr. 2009 Mar;168(3):363-5. doi: 10.1007/s00431-008-0760-8. Epub 2008 Jun 18. Review.

PMID:
18563441
9.

[X-linked alpha-thalassemia/mental retardation syndrome].

Wada T.

Rinsho Byori. 2009 Apr;57(4):382-90. Review. Japanese.

PMID:
19489441
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