U.S. flag

An official website of the United States government

Display Settings:

Format
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 5

1.
Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia
Badr M. Alsaleem, Mohammed Hasosah, Amna Basheer M. Ahmed, Maher M. Al Hatlani, Aziz Helal Alanazi, Abdulrahman Al-Hussaini, Ali T. Asery, Khalid A. Alghamdi, Muhanad M. AlRuwaithi, Musa Ali M. Khormi, Ahmed Al Sarkhy, Ali S. Alshamrani
Saudi J Gastroenterol. 2022 Mar-Apr; 28(2): 135–142. Published online 2021 Aug 16. doi: 10.4103/sjg.sjg_200_21
PMCID:
PMC9007078
ArticlePDF–716K
2.
Targeted next-generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome-2
Jiao Wang, Zhongji Pu, Zhenhua Lu
Mol Med Rep. 2018 Feb; 17(2): 2245–2250. Published online 2017 Nov 29. doi: 10.3892/mmr.2017.8191
PMCID:
PMC5783466
ArticlePDF–1.8M
3.
Neuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children
Mohammed Y. Hasosah, Alaa I. Iskandarani, Ayman I. Shawli, Ashraf F. Alsahafi, Ghassan A. Sukkar, Mansour A. Qurashi
Saudi J Gastroenterol. 2017 May-Jun; 23(3): 206–208. doi: 10.4103/1319-3767.207714
PMCID:
PMC5470381
ArticlePDF–503K
4.
Nephronophthisis
Rémi Salomon, Sophie Saunier, Patrick Niaudet
Pediatr Nephrol. 2009; 24(12): 2333–2344. Published online 2008 Jul 8. doi: 10.1007/s00467-008-0840-z
PMCID:
PMC2770134
ArticlePDF–351K
5.
Syndromic (phenotypic) diarrhea in early infancy
Olivier Goulet, Christine Vinson, Bertrand Roquelaure, Nicole Brousse, Christine Bodemer, Jean-Pierre Cézard
Orphanet J Rare Dis. 2008; 3: 6. Published online 2008 Feb 28. doi: 10.1186/1750-1172-3-6
PMCID:
PMC2279108
ArticlePDF–564K

Display Settings:

Format
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center