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Year | Number of Results |
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1994 | 1 |
1998 | 3 |
1999 | 2 |
2003 | 1 |
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PubMed (cited) for id: 603707
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Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
Hum Mutat. 2003 Jun;21(6):569-76. doi: 10.1002/humu.10223.
Hum Mutat. 2003.
PMID: 12754701
Review.
Molybdenum cofactor deficiency: first prenatal genetic analysis.
Reiss J, Christensen E, Dorche C.
Reiss J, et al.
Prenat Diagn. 1999 Apr;19(4):386-8. doi: 10.1002/(sici)1097-0223(199904)19:4<386::aid-pd550>3.0.co;2-#.
Prenat Diagn. 1999.
PMID: 10327149
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Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.
Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT.
Reiss J, et al.
Am J Hum Genet. 1999 Mar;64(3):706-11. doi: 10.1086/302296.
Am J Hum Genet. 1999.
PMID: 10053004
Free PMC article.
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Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.
Reiss J, Christensen E, Kurlemann G, Zabot MT, Dorche C.
Reiss J, et al.
Hum Genet. 1998 Dec;103(6):639-44. doi: 10.1007/s004390050884.
Hum Genet. 1998.
PMID: 9921896
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Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.
Reiss J, Cohen N, Dorche C, Mandel H, Mendel RR, Stallmeyer B, Zabot MT, Dierks T.
Reiss J, et al.
Nat Genet. 1998 Sep;20(1):51-3. doi: 10.1038/1706.
Nat Genet. 1998.
PMID: 9731530
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Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.
Shalata A, Mandel H, Reiss J, Szargel R, Cohen-Akenine A, Dorche C, Zabot MT, Van Gennip A, Abeling N, Berant M, Cohen N.
Shalata A, et al.
Am J Hum Genet. 1998 Jul;63(1):148-54. doi: 10.1086/301916.
Am J Hum Genet. 1998.
PMID: 9634514
Free PMC article.
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Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency.
van Gennip AH, Mandel H, Stroomer LE, van Cruchten AG.
van Gennip AH, et al.
Adv Exp Med Biol. 1994;370:375-8. doi: 10.1007/978-1-4615-2584-4_81.
Adv Exp Med Biol. 1994.
PMID: 7660932
No abstract available.
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