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Journal of Medical Genetics
|
July 1, 1991
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism
L B Giebel, M A Musarella, R A Spritz
Ophthalmic Genetics
|
May 20, 1998
Summary of ocular genetic disorders and inherited systemic conditions with eye findings
I M MacDonald, P M Haney, M A Musarella
Ophthalmology
|
August 1, 1984
Ocular involvement in neuroblastoma: prognostic implications
M A Musarella, H S Chan, G DeBoer, et al.
American Journal of Human Genetics
|
October 1, 1992
The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa
O Riess, A Noerremoelle, B Weber, et al.
Journal of Pediatric Ophthalmology and Strabismus
|
July 1, 1992
The optic disc in Leber congenital amaurosis
T J Sullivan, S R Lambert, J R Buncic, et al.
Human Molecular Genetics
|
July 1, 1993
Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p
H Dollfus, J M Rozet, M A Musarella, et al.
Human Molecular Genetics
|
June 1, 1993
Dinucleotide repeat polymorphism near the RP3 locus in Xp21 (DXS1110)
A F Roux, C C Yuan, J M Rommens, et al.
Australian and New Zealand Journal of Ophthalmology
|
February 1, 1994
The ocular pathology in Leber's congenital amaurosis
T J Sullivan, J G Heathcote, S M Brazel, et al.
American Journal of Medical Genetics
|
October 21, 1998
First African-American child with juvenile neuronal ceroid lipofuscinosis
C Inan, D Wong, K E Wisniewski, et al.
Genomics
|
October 1, 1990
Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis
R E Schnur, R G Knowlton, M A Musarella, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 43) with videos related to
Sort By:
Page
of 5
Journal of Medical Genetics
|
July 1, 1991
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism
L B Giebel, M A Musarella, R A Spritz
Ophthalmic Genetics
|
May 20, 1998
Summary of ocular genetic disorders and inherited systemic conditions with eye findings
I M MacDonald, P M Haney, M A Musarella
Ophthalmology
|
August 1, 1984
Ocular involvement in neuroblastoma: prognostic implications
M A Musarella, H S Chan, G DeBoer, et al.
American Journal of Human Genetics
|
October 1, 1992
The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa
O Riess, A Noerremoelle, B Weber, et al.
Journal of Pediatric Ophthalmology and Strabismus
|
July 1, 1992
The optic disc in Leber congenital amaurosis
T J Sullivan, S R Lambert, J R Buncic, et al.
Human Molecular Genetics
|
July 1, 1993
Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p
H Dollfus, J M Rozet, M A Musarella, et al.
Human Molecular Genetics
|
June 1, 1993
Dinucleotide repeat polymorphism near the RP3 locus in Xp21 (DXS1110)
A F Roux, C C Yuan, J M Rommens, et al.
Australian and New Zealand Journal of Ophthalmology
|
February 1, 1994
The ocular pathology in Leber's congenital amaurosis
T J Sullivan, J G Heathcote, S M Brazel, et al.
American Journal of Medical Genetics
|
October 21, 1998
First African-American child with juvenile neuronal ceroid lipofuscinosis
C Inan, D Wong, K E Wisniewski, et al.
Genomics
|
October 1, 1990
Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis
R E Schnur, R G Knowlton, M A Musarella, et al.
Page
of 5