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Human Mutation
|
January 1, 1995
A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] detected by a PCR-based diagnostic test
D H Brown, B L Triggs-Raine, M J McGinniss, et al.
Infection and Immunity
|
May 1, 1971
Comparative production of interferon by human fetal, neonatal, and maternal cells
W A Carter, K R Hande, B Essien, et al.
Birth Defects Original Article Series
|
January 1, 1975
Diagnosis of skeletal dysplasias in second trimester fetuses
M D Levine, R Lachman, D L Rimoin, et al.
JAMA
|
November 17, 1993
Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network
M Kaback, J Lim-Steele, D Dabholkar, et al.
American Journal of Human Genetics
|
November 1, 1982
Minor chromosomal variants and major chromosomal anomalies in couples with recurrent abortion
B D Blumberg, J D Shulkin, J I Rotter, et al.
American Journal of Human Genetics
|
May 1, 1975
Tay-Sachs disease: high gene frequency in a non-Jewish population
T E Kelly, G A Chase, M M Kaback, et al.
American Journal of Human Genetics
|
October 1, 1990
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program
B H Paw, P T Tieu, M M Kaback, et al.
Journal of the Neurological Sciences
|
June 1, 1980
Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in female relatives and patients with X-linked muscular dystrophies (Duchenne and Becker)
M Zatz, L J Shapiro, D S Campion, et al.
Human Molecular Genetics
|
December 1, 1992
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation
M Fernandes, F Kaplan, M Natowicz, et al.
The Journal of Biological Chemistry
|
September 10, 1984
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency
A d'Azzo, R L Proia, E H Kolodny, et al.
Page
of 12
Search research articles
Search
Showing results (71-80 of 114) with videos related to
Sort By:
Page
of 12
Human Mutation
|
January 1, 1995
A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] detected by a PCR-based diagnostic test
D H Brown, B L Triggs-Raine, M J McGinniss, et al.
Infection and Immunity
|
May 1, 1971
Comparative production of interferon by human fetal, neonatal, and maternal cells
W A Carter, K R Hande, B Essien, et al.
Birth Defects Original Article Series
|
January 1, 1975
Diagnosis of skeletal dysplasias in second trimester fetuses
M D Levine, R Lachman, D L Rimoin, et al.
JAMA
|
November 17, 1993
Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network
M Kaback, J Lim-Steele, D Dabholkar, et al.
American Journal of Human Genetics
|
November 1, 1982
Minor chromosomal variants and major chromosomal anomalies in couples with recurrent abortion
B D Blumberg, J D Shulkin, J I Rotter, et al.
American Journal of Human Genetics
|
May 1, 1975
Tay-Sachs disease: high gene frequency in a non-Jewish population
T E Kelly, G A Chase, M M Kaback, et al.
American Journal of Human Genetics
|
October 1, 1990
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program
B H Paw, P T Tieu, M M Kaback, et al.
Journal of the Neurological Sciences
|
June 1, 1980
Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in female relatives and patients with X-linked muscular dystrophies (Duchenne and Becker)
M Zatz, L J Shapiro, D S Campion, et al.
Human Molecular Genetics
|
December 1, 1992
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation
M Fernandes, F Kaplan, M Natowicz, et al.
The Journal of Biological Chemistry
|
September 10, 1984
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency
A d'Azzo, R L Proia, E H Kolodny, et al.
Page
of 12