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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1998 | 1 |
2001 | 1 |
2007 | 1 |
2015 | 1 |
2018 | 1 |
2024 | 0 |
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GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.
J Med Genet. 2001 Jun;38(6):374-80. doi: 10.1136/jmg.38.6.374.
J Med Genet. 2001.
PMID: 11389161
Free PMC article.
The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.
Döneray H, Usui T, Kaya A, Dönmez AS.
Döneray H, et al.
J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):140-3. doi: 10.4274/jcrpe.1874.
J Clin Res Pediatr Endocrinol. 2015.
PMID: 26316437
Free PMC article.
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A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene.
Martins FTA, Ramos BD, Sartorato EL.
Martins FTA, et al.
Genet Mol Biol. 2018 Oct-Dec;41(4):794-798. doi: 10.1590/1678-4685-GMB-2017-0194. Epub 2018 Nov 14.
Genet Mol Biol. 2018.
PMID: 30534854
Free PMC article.
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Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.
Buratti E, et al.
Nucleic Acids Res. 2007;35(13):4250-63. doi: 10.1093/nar/gkm402. Epub 2007 Jun 18.
Nucleic Acids Res. 2007.
PMID: 17576681
Free PMC article.
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Statistical features of human exons and their flanking regions.
Zhang MQ.
Zhang MQ.
Hum Mol Genet. 1998 May;7(5):919-32. doi: 10.1093/hmg/7.5.919.
Hum Mol Genet. 1998.
PMID: 9536098
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