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2013 | 3 |
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Page 1
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Nephron Physiol. 2013;123(3-4):7-14. doi: 10.1159/000356353. Epub 2013 Nov 2.
Nephron Physiol. 2013.
PMID: 24193250
Free article.
The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness.
Kullar P, Alston CL, Ball S, Blakely EL, Differ AM, Fratter C, Sweeney MG, Taylor RW, Chinnery PF.
Kullar P, et al. Among authors: differ am.
Hearing Balance Commun. 2016;14(2):101-102. doi: 10.3109/21695717.2016.1151124. Epub 2016 May 20.
Hearing Balance Commun. 2016.
PMID: 27257558
Free PMC article.
No abstract available.
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Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
Cross JH, Arora R, Heckemann RA, Gunny R, Chong K, Carr L, Baldeweg T, Differ AM, Lench N, Varadkar S, Sirimanna T, Wassmer E, Hulton SA, Ognjanovic M, Ramesh V, Feather S, Kleta R, Hammers A, Bockenhauer D.
Cross JH, et al. Among authors: differ am.
Dev Med Child Neurol. 2013 Sep;55(9):846-56. doi: 10.1111/dmcn.12171.
Dev Med Child Neurol. 2013.
PMID: 23924083
Free PMC article.
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Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.
Soh LM, Druce M, Grossman AB, Differ AM, Rajput L, Bitner-Glindzicz M, Korbonits M.
Soh LM, et al. Among authors: differ am.
Eur J Endocrinol. 2015 Feb;172(2):217-26. doi: 10.1530/EJE-14-0679. Epub 2014 Nov 13.
Eur J Endocrinol. 2015.
PMID: 25394566
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Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
Landa P, Differ AM, Rajput K, Jenkins L, Bitner-Glindzicz M.
Landa P, et al. Among authors: differ am.
BMC Med Genet. 2013 Aug 21;14:85. doi: 10.1186/1471-2350-14-85.
BMC Med Genet. 2013.
PMID: 23965030
Free PMC article.
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