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Results of search for 'au:"Sankila, E"', page 1 of 2
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Authors
Aittomäki, K
Alitalo, T
Breakefield, X O
Brunsmann, F
Cremers, F P
Forsius, H
Hämäläinen, R
Isosomppi, J
Jalkanen, R
Jay, B
Joensuu, T
Kääriäinen, H
Lehesjoki, A E
Murphy, D L
Norio, R
Pakarinen, L
Sankila, E M
Sankila, E-M
Sims, K B
de la Chapelle, A
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Topics
Adolescent
Adult
Base Sequence
Blotting, Southern
Child
Choroideremia
Chromosome Deletion
Chromosome Mapping
DNA
Female
Finland
Genetic Linkage
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Retinitis Pigmentosa
X Chromosome
genetics
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English
Finnish
Your search returned 33 results.
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1.
[Choroideremia: in the trace of a new protein family].
[electronic resource]
by
Sankila, E M
Producer:
19960213
In:
Duodecim; laaketieteellinen aikakauskirja
vol. 110
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2.
[Finnish heredity even in hearing disorders?].
[electronic resource]
by
Pakarinen, L
Sankila, E M
Producer:
20020110
In:
Duodecim; laaketieteellinen aikakauskirja
vol. 114
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3.
Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives.
[electronic resource]
by
Furu, T
Kääriäinen, H
Sankila, E M
Norio, R
Producer:
19930701
In:
Clinical genetics
vol. 43
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4.
Choroideremia: linkage analysis with physically mapped close DNA-markers.
[electronic resource]
by
Sankila, E M
Sistonen, P
Cremers, F
de la Chapelle, A
Producer:
19910912
In:
Human genetics
vol. 87
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5.
Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis.
[electronic resource]
by
de la Chapelle, A
Sankila, E M
Lindlöf, M
Aula, P
Norio, R
Producer:
19860102
In:
Clinical genetics
vol. 28
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6.
A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q.
[electronic resource]
by
Joensuu, T
Hämäläinen, R
Lehesjoki, A E
de la Chapelle, A
Sankila, E M
Producer:
20000727
In:
Genomics
vol. 63
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7.
Segregation and fertility analysis in an autosomal reciprocal translocation, t(1;8)(q41;q23.1).
[electronic resource]
by
Vauhkonen, A E
Sankila, E M
Simola, K O
de la Chapelle, A
Producer:
19850715
In:
American journal of human genetics
vol. 37
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8.
Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism.
[electronic resource]
by
Ala-Mello, S
Sankila, E M
Koskimies, O
de la Chapelle, A
Kääriäinen, H
Producer:
19980630
In:
Journal of medical genetics
vol. 35
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9.
Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence.
[electronic resource]
by
Sankila, E M
de la Chapelle, A
Kärnä, J
Forsius, H
Frants, R
Eriksson, A
Producer:
19870828
In:
Clinical genetics
vol. 31
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10.
In vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy.
[electronic resource]
by
Vesaluoma, M H
Linna, T U
Sankila, E M
Weiss, J S
Tervo, T M
Producer:
19990521
In:
Ophthalmology
vol. 106
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11.
Aberrant splicing of the CHM gene is a significant cause of choroideremia.
[electronic resource]
by
Sankila, E M
Tolvanen, R
van den Hurk, J A
Cremers, F P
de la Chapelle, A
Producer:
19930610
In:
Nature genetics
vol. 1
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12.
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.
[electronic resource]
by
Sankila, E M
Pakarinen, L
Kääriäinen, H
Aittomäki, K
Karjalainen, S
Sistonen, P
de la Chapelle, A
Producer:
19950516
In:
Human molecular genetics
vol. 4
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13.
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.
[electronic resource]
by
Jalkanen, R
Mäntyjärvi, M
Tobias, R
Isosomppi, J
Sankila, E-M
Alitalo, T
Bech-Hansen, N T
Producer:
20061227
In:
Journal of medical genetics
vol. 43
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14.
Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region.
[electronic resource]
by
Joensuu, T
Blanco, G
Pakarinen, L
Sistonen, P
Kääriäinen, H
Brown, S
Chapelle, A
Sankila, E M
Producer:
19970305
In:
Genomics
vol. 38
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15.
A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy.
[electronic resource]
by
Sankila, E M
Joensuu, T H
Hämäläinen, R H
Raitanen, N
Valle, O
Ignatius, J
Cormand, B
Producer:
20000825
In:
Human mutation
vol. 16
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16.
X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.
[electronic resource]
by
Lehesjoki, A E
Sankila, E M
Miao, J
Somer, M
Salonen, R
Rapola, J
de la Chapelle, A
Producer:
19900717
In:
Journal of medical genetics
vol. 27
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17.
Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene.
[electronic resource]
by
Lauronen, L
Jalkanen, R
Huttunen, J
Carlsson, E
Tuupanen, S
Lindh, S
Forsius, H
Sankila, E-M
Alitalo, T
Producer:
20050926
In:
The British journal of ophthalmology
vol. 89
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18.
Marked amine and amine metabolite changes in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase.
[electronic resource]
by
Murphy, D L
Sims, K B
Karoum, F
de la Chapelle, A
Norio, R
Sankila, E M
Breakefield, X O
Producer:
19900119
In:
Journal of neurochemistry
vol. 54
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19.
Haplotype and multipoint linkage analysis in Finnish choroideremia families.
[electronic resource]
by
Sankila, E M
Lehner, T
Eriksson, A W
Forsius, H
Kärnä, J
Page, D
Ott, J
de la Chapelle, A
Producer:
19900209
In:
Human genetics
vol. 84
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20.
Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie disease: preliminary report.
[electronic resource]
by
Joy, J E
Poglod, R
Murphy, D L
Sims, K B
de la Chapelle, A
Sankila, E M
Norio, R
Merril, C R
Producer:
19911125
In:
Applied and theoretical electrophoresis : the official journal of the International Electrophoresis Society
vol. 2
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