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1999 | 1 |
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2013 | 1 |
2017 | 1 |
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Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.
Eur J Pediatr. 2005 Aug;164(8):501-8. doi: 10.1007/s00431-005-1657-4. Epub 2005 May 19.
Eur J Pediatr. 2005.
PMID: 15906092
Review.
Structure and mutation analysis of the glycogen storage disease type 1b gene.
Marcolongo P, Barone V, Priori G, Pirola B, Giglio S, Biasucci G, Zammarchi E, Parenti G, Burchell A, Benedetti A, Sorrentino V.
Marcolongo P, et al.
FEBS Lett. 1998 Oct 2;436(2):247-50. doi: 10.1016/s0014-5793(98)01129-6.
FEBS Lett. 1998.
PMID: 9781688
Free article.
Item in Clipboard
Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.
Chen LY, Pan CJ, Shieh JJ, Chou JY.
Chen LY, et al.
Hum Mol Genet. 2002 Dec 1;11(25):3199-207. doi: 10.1093/hmg/11.25.3199.
Hum Mol Genet. 2002.
PMID: 12444104
Item in Clipboard
Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.
Chen LY, Lin B, Pan CJ, Hiraiwa H, Chou JY.
Chen LY, et al.
J Biol Chem. 2000 Nov 3;275(44):34280-6. doi: 10.1074/jbc.M006439200.
J Biol Chem. 2000.
PMID: 10940311
Free article.
Item in Clipboard
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.
Amir RE, et al.
Nat Genet. 1999 Oct;23(2):185-8. doi: 10.1038/13810.
Nat Genet. 1999.
PMID: 10508514
Item in Clipboard
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
Maortua H, Martínez-Bouzas C, García-Ribes A, Martínez MJ, Guillen E, Domingo MR, Calvo MT, Guitart M, Gabau E, Botella MP, Gener B, Rubio I, López-Aríztegui MA, Tejada MI.
Maortua H, et al.
J Mol Diagn. 2013 Sep;15(5):723-9. doi: 10.1016/j.jmoldx.2013.05.002. Epub 2013 Jun 26.
J Mol Diagn. 2013.
PMID: 23810759
Free article.
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Familial cases and male cases with MECP2 mutations.
Zhang Q, Zhao Y, Bao X, Luo J, Zhang X, Li J, Wei L, Wu X.
Zhang Q, et al.
Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):451-457. doi: 10.1002/ajmg.b.32534. Epub 2017 Apr 10.
Am J Med Genet B Neuropsychiatr Genet. 2017.
PMID: 28394482
Free PMC article.
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