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Human Molecular Genetics
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July 13, 1999
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa
R Kirschner, T Rosenberg, R Schultz-Heienbrok, et al.
Human Genetics
|
October 1, 1996
Genetic fine mapping of the gene for recessive Stargardt disease
C B Hoyng, F Poppelaars, T J van de Pol, et al.
Human Molecular Genetics
|
August 25, 2000
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
R Roepman, N Bernoud-Hubac, D E Schick, et al.
Genomics
|
January 1, 1989
Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes
F P Cremers, D J van de Pol, P J Diergaarde, et al.
American Journal of Human Genetics
|
August 26, 2000
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy
A Maugeri, B J Klevering, K Rohrschneider, et al.
Cell
|
June 18, 1993
cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein
D A Andres, M C Seabra, M S Brown, et al.
Human Genetics
|
September 1, 1987
An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region
F P Cremers, R A Pfeiffer, T J van de Pol, et al.
Human Genetics
|
March 10, 1999
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22
A I den Hollander, S D van der Velde-Visser, A J Pinckers, et al.
American Journal of Human Genetics
|
July 1, 1990
Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I
Y Shiloh, G Litvak, Y Ziv, et al.
The Laryngoscope
|
September 28, 1999
Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9
S J Bom, M H Kemperman, Y J De Kok, et al.
Page
of 8
Search research articles
Search
Showing results (31-40 of 80) with videos related to
Sort By:
Page
of 8
Human Molecular Genetics
|
July 13, 1999
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa
R Kirschner, T Rosenberg, R Schultz-Heienbrok, et al.
Human Genetics
|
October 1, 1996
Genetic fine mapping of the gene for recessive Stargardt disease
C B Hoyng, F Poppelaars, T J van de Pol, et al.
Human Molecular Genetics
|
August 25, 2000
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
R Roepman, N Bernoud-Hubac, D E Schick, et al.
Genomics
|
January 1, 1989
Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes
F P Cremers, D J van de Pol, P J Diergaarde, et al.
American Journal of Human Genetics
|
August 26, 2000
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy
A Maugeri, B J Klevering, K Rohrschneider, et al.
Cell
|
June 18, 1993
cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein
D A Andres, M C Seabra, M S Brown, et al.
Human Genetics
|
September 1, 1987
An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region
F P Cremers, R A Pfeiffer, T J van de Pol, et al.
Human Genetics
|
March 10, 1999
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22
A I den Hollander, S D van der Velde-Visser, A J Pinckers, et al.
American Journal of Human Genetics
|
July 1, 1990
Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I
Y Shiloh, G Litvak, Y Ziv, et al.
The Laryngoscope
|
September 28, 1999
Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9
S J Bom, M H Kemperman, Y J De Kok, et al.
Page
of 8