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Human Genetics
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December 1, 1991
Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28
V Biancalana, B Le Marec, S Odent, et al.
Nature Genetics
|
May 1, 1992
Aberrant splicing of the CHM gene is a significant cause of choroideremia
E M Sankila, R Tolvanen, J A van den Hurk, et al.
Human Mutation
|
January 1, 1993
Identification of mutations in Danish choroideremia families
M Schwartz, T Rosenberg, J A van den Hurk, et al.
Human Molecular Genetics
|
July 1, 1994
Cloning and characterization of the human choroideremia gene
H van Bokhoven, J A van den Hurk, L Bogerd, et al.
Human Genetics
|
March 1, 1993
DXS539, a polymorphic DNA marker proximal of the fragile-X gene
J C Dreesen, J A van den Hurk, A P Smits, et al.
American Journal of Medical Genetics
|
December 1, 1992
Prenatal exclusion of choroideremia
J A van den Hurk, P M van Zandvoort, F Brunsmann, et al.
Human Molecular Genetics
|
July 1, 1994
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients
H van Bokhoven, M Schwartz, S Andréasson, et al.
Journal of Cell Science
|
July 13, 2000
The small GTPase Rab6B, a novel Rab6 subfamily member, is cell-type specifically expressed and localised to the Golgi apparatus
F J Opdam, A Echard, H J Croes, et al.
Human Molecular Genetics
|
May 1, 1992
An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q
F P Cremers, C M Molloy, D J van de Pol, et al.
American Journal of Human Genetics
|
June 1, 1992
Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing
J A van den Hurk, T J van de Pol, C M Molloy, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Human Genetics
|
December 1, 1991
Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28
V Biancalana, B Le Marec, S Odent, et al.
Nature Genetics
|
May 1, 1992
Aberrant splicing of the CHM gene is a significant cause of choroideremia
E M Sankila, R Tolvanen, J A van den Hurk, et al.
Human Mutation
|
January 1, 1993
Identification of mutations in Danish choroideremia families
M Schwartz, T Rosenberg, J A van den Hurk, et al.
Human Molecular Genetics
|
July 1, 1994
Cloning and characterization of the human choroideremia gene
H van Bokhoven, J A van den Hurk, L Bogerd, et al.
Human Genetics
|
March 1, 1993
DXS539, a polymorphic DNA marker proximal of the fragile-X gene
J C Dreesen, J A van den Hurk, A P Smits, et al.
American Journal of Medical Genetics
|
December 1, 1992
Prenatal exclusion of choroideremia
J A van den Hurk, P M van Zandvoort, F Brunsmann, et al.
Human Molecular Genetics
|
July 1, 1994
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients
H van Bokhoven, M Schwartz, S Andréasson, et al.
Journal of Cell Science
|
July 13, 2000
The small GTPase Rab6B, a novel Rab6 subfamily member, is cell-type specifically expressed and localised to the Golgi apparatus
F J Opdam, A Echard, H J Croes, et al.
Human Molecular Genetics
|
May 1, 1992
An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q
F P Cremers, C M Molloy, D J van de Pol, et al.
American Journal of Human Genetics
|
June 1, 1992
Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing
J A van den Hurk, T J van de Pol, C M Molloy, et al.
Page
of 2