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American Journal of Medical Genetics
|
May 30, 1998
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome
K Chun, J Siegel-Bartelt, D Chitayat, et al.
The EMBO Journal
|
December 1, 1991
Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy
S E Bodrug, J J Holden, P N Ray, et al.
Advances in Experimental Medicine and Biology
|
January 1, 1990
Genetic and biochemical determinations in the pre-transplant workup and in the post-transplant assessment period
R G Worton, D E Bulman, E E Zubrzycka-Gaarn, et al.
Clinical Chemistry
|
June 1, 1997
PCR-based test for two cystic fibrosis mutations (A455E, 711 + 1 G-->T) common among French Canadians
P M Strasberg, D Noreau, L McGlynn-Steele, et al.
Nucleic Acids Research
|
April 15, 1997
A muscle-specific enhancer within intron 1 of the human dystrophin gene is functionally dependent on single MEF-1/E box and MEF-2/AT-rich sequence motifs
H J Klamut, L O Bosnoyan-Collins, R G Worton, et al.
American Journal of Medical Genetics
|
January 1, 1991
Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus
J M Langley, J W Balfe, T Selander, et al.
Human Molecular Genetics
|
November 1, 1995
A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif
P Strasberg, H A Liede, T Stein, et al.
American Journal of Medical Genetics
|
February 5, 1998
Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex
T Costa, M Lambert, I Teshima, et al.
American Journal of Medical Genetics
|
February 1, 1988
A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome
S Wood, R J Shukin, B C McGillivray, et al.
Neuromuscular Disorders : NMD
|
March 29, 2000
Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain
R C Austin, G E Morris, P L Howard, et al.
Page
of 11
Search research articles
Search
Showing results (41-50 of 110) with videos related to
Sort By:
Page
of 11
American Journal of Medical Genetics
|
May 30, 1998
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome
K Chun, J Siegel-Bartelt, D Chitayat, et al.
The EMBO Journal
|
December 1, 1991
Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy
S E Bodrug, J J Holden, P N Ray, et al.
Advances in Experimental Medicine and Biology
|
January 1, 1990
Genetic and biochemical determinations in the pre-transplant workup and in the post-transplant assessment period
R G Worton, D E Bulman, E E Zubrzycka-Gaarn, et al.
Clinical Chemistry
|
June 1, 1997
PCR-based test for two cystic fibrosis mutations (A455E, 711 + 1 G-->T) common among French Canadians
P M Strasberg, D Noreau, L McGlynn-Steele, et al.
Nucleic Acids Research
|
April 15, 1997
A muscle-specific enhancer within intron 1 of the human dystrophin gene is functionally dependent on single MEF-1/E box and MEF-2/AT-rich sequence motifs
H J Klamut, L O Bosnoyan-Collins, R G Worton, et al.
American Journal of Medical Genetics
|
January 1, 1991
Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus
J M Langley, J W Balfe, T Selander, et al.
Human Molecular Genetics
|
November 1, 1995
A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif
P Strasberg, H A Liede, T Stein, et al.
American Journal of Medical Genetics
|
February 5, 1998
Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex
T Costa, M Lambert, I Teshima, et al.
American Journal of Medical Genetics
|
February 1, 1988
A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome
S Wood, R J Shukin, B C McGillivray, et al.
Neuromuscular Disorders : NMD
|
March 29, 2000
Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain
R C Austin, G E Morris, P L Howard, et al.
Page
of 11