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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2014 | 1 |
2017 | 1 |
2018 | 1 |
2019 | 2 |
2021 | 1 |
2024 | 0 |
PubMed (cited) for id: 619446
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Page 1
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
Hum Genet. 2021 Aug;140(8):1143-1156. doi: 10.1007/s00439-021-02284-1. Epub 2021 May 11.
Hum Genet. 2021.
PMID: 33974130
Free PMC article.
Microvillus inclusion disease, a diagnosis to consider when abnormal stools and neurological impairments run together due to a rare syntaxin 3 gene mutation.
Julia J, Shui V, Mittal N, Heim-Hall J, Blanco CL.
Julia J, et al.
J Neonatal Perinatal Med. 2019;12(3):313-319. doi: 10.3233/NPM-1852.
J Neonatal Perinatal Med. 2019.
PMID: 30909251
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Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS.
Maddirevula S, et al.
Genet Med. 2019 Mar;21(3):736-742. doi: 10.1038/s41436-018-0138-x. Epub 2018 Sep 21.
Genet Med. 2019.
PMID: 30237576
Free PMC article.
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Microvillus Inclusion Disease Variant in an Infant with Intractable Diarrhea.
Alsaleem BMR, Ahmed ABM, Fageeh MA.
Alsaleem BMR, et al.
Case Rep Gastroenterol. 2017 Nov 2;11(3):647-651. doi: 10.1159/000479624. eCollection 2017 Sep-Dec.
Case Rep Gastroenterol. 2017.
PMID: 29282386
Free PMC article.
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Loss of syntaxin 3 causes variant microvillus inclusion disease.
Wiegerinck CL, Janecke AR, Schneeberger K, Vogel GF, van Haaften-Visser DY, Escher JC, Adam R, Thöni CE, Pfaller K, Jordan AJ, Weis CA, Nijman IJ, Monroe GR, van Hasselt PM, Cutz E, Klumperman J, Clevers H, Nieuwenhuis EE, Houwen RH, van Haaften G, Hess MW, Huber LA, Stapelbroek JM, Müller T, Middendorp S.
Wiegerinck CL, et al.
Gastroenterology. 2014 Jul;147(1):65-68.e10. doi: 10.1053/j.gastro.2014.04.002. Epub 2014 Apr 12.
Gastroenterology. 2014.
PMID: 24726755
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