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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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2000 | 1 |
2001 | 1 |
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2012 | 1 |
2014 | 1 |
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Page 1
Localization and distribution of wolframin in human tissues.
Front Biosci (Elite Ed). 2012 Jan 1;4(5):1986-98. doi: 10.2741/519.
Front Biosci (Elite Ed). 2012.
PMID: 22202014
Free article.
Modulation of wolframin expression in human placenta during pregnancy: comparison among physiological and pathological states.
Lucariello A, Perna A, Sellitto C, Baldi A, Iannaccone A, Cobellis L, De Luca A, De Falco M.
Lucariello A, et al.
Biomed Res Int. 2014;2014:985478. doi: 10.1155/2014/985478. Epub 2014 Jan 23.
Biomed Res Int. 2014.
PMID: 24588001
Free PMC article.
Item in Clipboard
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.
Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM.
Brown DJ, et al.
Am J Hum Genet. 2002 Sep;71(3):618-24. doi: 10.1086/342067. Epub 2002 Jun 27.
Am J Hum Genet. 2002.
PMID: 12089654
Free PMC article.
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Phenotypic characterization of hereditary hearing impairment linked to DFNA25.
Thirlwall AS, Brown DJ, McMillan PM, Barker SE, Lesperance MM.
Thirlwall AS, et al.
Arch Otolaryngol Head Neck Surg. 2003 Aug;129(8):830-5. doi: 10.1001/archotol.129.8.830.
Arch Otolaryngol Head Neck Surg. 2003.
PMID: 12925340
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Characterization of a stapes ankylosis family with a NOG mutation.
Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Gebarski SS, Lesperance MM.
Brown DJ, et al.
Otol Neurotol. 2003 Mar;24(2):210-5. doi: 10.1097/00129492-200303000-00014.
Otol Neurotol. 2003.
PMID: 12621334
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DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.
Greene CC, McMillan PM, Barker SE, Kurnool P, Lomax MI, Burmeister M, Lesperance MM.
Greene CC, et al.
Am J Hum Genet. 2001 Jan;68(1):254-60. doi: 10.1086/316925. Epub 2000 Dec 11.
Am J Hum Genet. 2001.
PMID: 11115382
Free PMC article.
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Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
Ruel J, Emery S, Nouvian R, Bersot T, Amilhon B, Van Rybroek JM, Rebillard G, Lenoir M, Eybalin M, Delprat B, Sivakumaran TA, Giros B, El Mestikawy S, Moser T, Smith RJ, Lesperance MM, Puel JL.
Ruel J, et al.
Am J Hum Genet. 2008 Aug;83(2):278-92. doi: 10.1016/j.ajhg.2008.07.008.
Am J Hum Genet. 2008.
PMID: 18674745
Free PMC article.
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