Search Results - "Mueller, R.F"

Attitudes of Deaf Adults toward Genetic Testing for Hereditary Deafness by Middleton, Anna, Hewison, J., Mueller, R.F.

“…Recent advances within molecular genetics to identify the genes for deafness mean that it is now possible for genetic-counseling services to offer genetic…”
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A family study and the natural history of prenatally detected unilateral multicystic dysplastic kidney by Belk, R A, Thomas, D F M, Mueller, R F, Godbole, P, Markham, A F, Weston, M J

“…We document the inheritance pattern of multicystic dysplastic kidney in 3 affected families and screen first-degree relatives of a cohort of children with…”
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Reply to Michie and Marteau by Middleton, A., Mueller, R.F., Hewison, J.

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A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25 by McHale, D.P., Mitchell, S., Bundey, S., Moynihan, L., Campbell, D.A., Woods, C.G., Lench, N.J., Mueller, R.F., Markham, A.F.

“…Cerebral palsy has an incidence of ∼1/500 births, although this varies between different ethnic groups. Genetic forms of the disease account for ∼1%–2% of…”
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Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations — molecular and audiological findings by Mueller, R.F, Nehammer, A, Middleton, A, Houseman, M, Taylor, G.R, Bitner-Glindzciz, M, Van Camp, G, Parker, M, Young, I.D, Davis, A, Newton, V.E, Lench, N.J

“…We screened DNA from 72 sibships and 138 sporadically affected individuals with congenital non-syndromal sensorineural hearing impairment (NSSNHI) for…”
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A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24 by Mitchell, S.J., McHale, D.P., Campbell, D.A., Lench, N.J., Mueller, R.F., Bundey, S.E., Markham, A.F.

“…Nine affected individuals are described from a large extended Pakistani family manifesting a syndrome characterized by a triad of varying degrees of…”
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A novel insertional mutation at the third zinc finger coding region of the WT1 gene in Denys-Drash syndrome by Ogawa, O, Eccles, M R, Yun, K, Mueller, R F, Holdaway, M D, Reeve, A E

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Genetics for orthopaedic surgeons by Chu, C.E, Mueller, R.F

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Genetic linkage analysis of chromosome 19 markers in malignant hyperthermia by Ball, S P, Dorkins, H R, Ellis, F R, Hall, J L, Halsall, P J, Hopkins, P M, Mueller, R F, Stewart, A D

“…Previous studies have reported that malignant hyperthermia susceptibility is caused in some families by inherited variation in a gene located on the short arm…”
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Atmospheric trace gases: linear relations between concentration and time by Khalil, M.A.K, Rasmussen, R.A, Mueller, R.F, Ketz, R

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High Temperature and Pressure Aqueous Solubility Data Bearing on the Stability of Silicates by Mueller, Robert F.

“…A method is discussed by which the aqueous solubility of$SiO_{2}$over free silica is compared with the solubility of the same constituent over more complex…”
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Six cases of 7p deletion: clinical, cytogenetic, and molecular studies by Chotai, K A, Brueton, L A, van Herwerden, L, Garrett, C, Hinkel, G K, Schinzel, A, Mueller, R F, Speleman, F, Winter, R M

“…To date, 32 cases of partial 7p monosomy have been described, 14 of which have been associated with craniosynostosis (CRS). There is considerable variation in…”
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