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114 results
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Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).
Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM. Amiel J, et al. Clin Dysmorphol. 1998 Jan;7(1):17-20. Clin Dysmorphol. 1998. PMID: 9546825
Gene linkage and genetic deafness.
Cremers CW, Brown SD, Steel KP, Brunner HG, Read AP, Kimberling WJ. Cremers CW, et al. Int J Pediatr Otorhinolaryngol. 1995 Jun;32 Suppl:S167-74. doi: 10.1016/0165-5876(94)01154-p. Int J Pediatr Otorhinolaryngol. 1995. PMID: 7665287 No abstract available.
Read's Recall: Shuffling abstracts - and foundations.
Read AP. Read AP. Eur J Hum Genet. 2017 Dec;25(s2):S27-S28. doi: 10.1038/ejhg.2017.149. Eur J Hum Genet. 2017. PMID: 29297877 Free PMC article. No abstract available.
What can be offered to couples at (possibly) increased genetic risk?
Read AP, Donnai D. Read AP, et al. J Community Genet. 2012 Jul;3(3):167-74. doi: 10.1007/s12687-012-0105-1. Epub 2012 Jul 4. J Community Genet. 2012. PMID: 22760671 Free PMC article.
Apparent prevention of neural tube defects by periconceptional vitamin supplementation. 1981.
Smithells RW, Sheppard S, Schorah CJ, Seller MJ, Nevin NC, Harris R, Read AP, Fielding DW. Smithells RW, et al. Among authors: read ap. Int J Epidemiol. 2011 Oct;40(5):1146-54. doi: 10.1093/ije/dyr143. Int J Epidemiol. 2011. PMID: 22039189
The genetics of otosclerosis: pedigree studies and linkage analysis.
Saeed SR, Briggs M, Lobo C, Al-Zoubi F, Ramsden RT, Read AP. Saeed SR, et al. Among authors: read ap. Adv Otorhinolaryngol. 2007;65:75-85. doi: 10.1159/000098675. Adv Otorhinolaryngol. 2007. PMID: 17245027
Phenotypic variation in constitutional delay of growth and puberty: relationship to specific leptin and leptin receptor gene polymorphisms.
Banerjee I, Trueman JA, Hall CM, Price DA, Patel L, Whatmore AJ, Hirschhorn JN, Read AP, Palmert MR, Clayton PE. Banerjee I, et al. Among authors: read ap. Eur J Endocrinol. 2006 Jul;155(1):121-6. doi: 10.1530/eje.1.02184. Eur J Endocrinol. 2006. PMID: 16793957
GTF2IRD1 in craniofacial development of humans and mice.
Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton T, Metcalfe K, Rucka A, Stewart H, Read AP, Maconochie M, Donnai D. Tassabehji M, et al. Among authors: read ap. Science. 2005 Nov 18;310(5751):1184-7. doi: 10.1126/science.1116142. Epub 2005 Nov 3. Science. 2005. PMID: 16293761 Free article.
Inherited eye disease: cause and late effect.
Manson FD, Trump D, Read AP, Black GC. Manson FD, et al. Among authors: read ap. Trends Mol Med. 2005 Oct;11(10):449-55. doi: 10.1016/j.molmed.2005.08.001. Epub 2005 Sep 8. Trends Mol Med. 2005. PMID: 16153893 Review.
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