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Results of search for 'au:"Bitner-Glindzicz, M"', page 1 of 2
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Authors
Albert, D M
Bathen, J
Bellman, S
Bitner-Glindzicz, M
Cremers, F P
Huber, I
Jenkins, L
Kelsell, D P
Liu, X Z
MacArdle, B
Malcolm, S
Mueller, R F
Newton, V
Pembrey, M E
Rickard, S
Ropers, H H
Sirimanna, T
Tranebjaerg, L
Tyson, J
de Kok, Y J
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Topics
Base Sequence
Child
Child, Preschool
Chromosome Mapping
Connexin 26
Connexins
DNA
DNA Mutational Analysis
Deafness
Female
Genes, Recessive
Genetic Linkage
Hearing Loss, Sensorineural
Humans
Long QT Syndrome
Male
Mutation
Pedigree
Syndrome
genetics
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Languages
English
Your search returned 36 results.
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1.
DFN2.
[electronic resource]
by
Bitner-Glindzicz, M
Tyson, J
Producer:
20001002
In:
Advances in oto-rhino-laryngology
vol. 56
Online resources:
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2.
The Jervell and Lange-Nielsen syndrome.
[electronic resource]
by
Bitner-Glindzicz, M
Tranebjaerg, L
Producer:
20001002
In:
Advances in oto-rhino-laryngology
vol. 56
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3.
Splice mutations in KVLQT1?
[electronic resource]
by
Tyson, J
Malcolm, S
Bitner-Glindzicz, M
Producer:
19990526
In:
Circulation
vol. 99
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4.
Molecular basis of the long-QT syndrome.
[electronic resource]
by
Bitner-Glindzicz, M
Tyson, J
Jamieson, R
Producer:
19971002
In:
The New England journal of medicine
vol. 337
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5.
A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.
[electronic resource]
by
Huang, L
Bitner-Glindzicz, M
Tranebjaerg, L
Tinker, A
Producer:
20011101
In:
Cardiovascular research
vol. 51
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6.
Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.
[electronic resource]
by
Rickard, S
Boxer, M
Trompeter, R
Bitner-Glindzicz, M
Producer:
20000912
In:
Journal of medical genetics
vol. 37
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7.
Jervell and Lange-Nielsen syndrome: a Norwegian perspective.
[electronic resource]
by
Tranebjaerg, L
Bathen, J
Tyson, J
Bitner-Glindzicz, M
Producer:
20000424
In:
American journal of medical genetics
vol. 89
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8.
Aetiological investigations of hearing loss in childhood: a review.
[electronic resource]
by
Bamiou, D E
MacArdle, B
Bitner-Glindzicz, M
Sirimanna, T
Producer:
20000713
In:
Clinical otolaryngology and allied sciences
vol. 25
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9.
Non-mydriatic retinal photography as a screening service for general practitioners.
[electronic resource]
by
Rogers, D
Bitner-Glindzicz, M
Harris, C
Yudkin, J S
Producer:
19900404
In:
Diabetic medicine : a journal of the British Diabetic Association
vol. 7
Online resources:
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10.
Mapping and cloning hereditary deafness genes.
[electronic resource]
by
Cremers, F P
Bitner-Glindzicz, M
Pembrey, M E
Ropers, H H
Producer:
19951023
In:
Current opinion in genetics & development
vol. 5
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11.
Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families.
[electronic resource]
by
Rickard, S
Kelsell, D P
Sirimana, T
Rajput, K
MacArdle, B
Bitner-Glindzicz, M
Producer:
20011205
In:
Journal of medical genetics
vol. 38
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12.
Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population.
[electronic resource]
by
Bajaj, Y
Sirimanna, T
Albert, D M
Qadir, P
Jenkins, L
Bitner-Glindzicz, M
Producer:
20090310
In:
Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery
vol. 33
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13.
Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.
[electronic resource]
by
Shears, D
Conlon, H
Murakami, T
Fukai, K
Alles, R
Trembath, R
Bitner-Glindzicz, M
Producer:
20041230
In:
Clinical genetics
vol. 65
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14.
Guidelines and recommendations for testing of Cx26 mutations and interpretation of results.
[electronic resource]
by
Mazzoli, M
Newton, V
Murgia, A
Bitner-Glindzicz, M
Gasparini, P
Read, A
Parving, A
Producer:
20050225
In:
International journal of pediatric otorhinolaryngology
vol. 68
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15.
Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment.
[electronic resource]
by
Hutchin, T P
Thompson, K R
Parker, M
Newton, V
Bitner-Glindzicz, M
Mueller, R F
Producer:
20011025
In:
Journal of medical genetics
vol. 38
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16.
Mapping of DFN2 to Xq22.
[electronic resource]
by
Tyson, J
Bellman, S
Newton, V
Simpson, P
Malcolm, S
Pembrey, M E
Bitner-Glindzicz, M
Producer:
19970314
In:
Human molecular genetics
vol. 5
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17.
Causes of deafness in British Bangladeshi children: a prevalence twice that of the UK population cannot be accounted for by consanguinity alone.
[electronic resource]
by
Bajaj, Y
Sirimanna, T
Albert, D M
Qadir, P
Jenkins, L
Cortina-Borja, M
Bitner-Glindzicz, M
Producer:
20090722
In:
Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery
vol. 34
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18.
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.
[electronic resource]
by
Rickard, S
Parker, M
van't Hoff, W
Barnicoat, A
Russell-Eggitt, I
Winter, R M
Bitner-Glindzicz, M
Producer:
20010628
In:
Human genetics
vol. 108
Online resources:
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19.
Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830).
[electronic resource]
by
Common, J E A
Bitner-Glindzicz, M
O'Toole, E A
Barnes, M R
Jenkins, L
Forge, A
Kelsell, D P
Producer:
20060206
In:
Clinical and experimental dermatology
vol. 30
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20.
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.
[electronic resource]
by
de Vries, B B
Bitner-Glindzicz, M
Knight, S J
Tyson, J
MacDermont, K D
Flint, J
Malcolm, S
Winter, R M
Producer:
20010222
In:
Clinical genetics
vol. 58
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