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American Journal of Medical Genetics
|
January 15, 1993
Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta
J F Bateman, S R Lamande, M Hannagan, et al.
American Journal of Medical Genetics
|
June 8, 2001
Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression
J M Stoler, B Bromley, M A Castro, et al.
The Journal of Biological Chemistry
|
August 30, 1996
Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix
S Mundlos, D Chan, Y M Weng, et al.
The Journal of Biological Chemistry
|
July 5, 1989
A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta
J F Bateman, S R Lamande, H H Dahl, et al.
The Australian and New Zealand Journal of Surgery
|
February 1, 1986
Intravenous regional anaesthesia for the treatment of upper limb injuries in childhood
P L Turner, J B Batten, D Hjorth, et al.
The EMBO Journal
|
June 1, 1989
A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII
D Weil, M D'Alessio, F Ramirez, et al.
Journal of Medical Genetics
|
April 1, 1994
The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene
A J Carr, A A Chiodo, J M Hilton, et al.
Medinfo. MEDINFO
|
January 1, 1995
Identifying concepts in medical knowledge
S J Nelson, N E Olson, L Fuller, et al.
American Journal of Medical Genetics
|
March 1, 1986
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity
D O Sillence, K K Barlow, W G Cole, et al.
Journal of Palliative Medicine
|
April 30, 2005
Preferences for life-sustaining treatments in advance care planning and surrogate decision making
R A Pearlman, K C Cain, H Starks, et al.
Page
of 21
Search research articles
Search
Showing results (171-180 of 210) with videos related to
Sort By:
Page
of 21
American Journal of Medical Genetics
|
January 15, 1993
Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta
J F Bateman, S R Lamande, M Hannagan, et al.
American Journal of Medical Genetics
|
June 8, 2001
Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression
J M Stoler, B Bromley, M A Castro, et al.
The Journal of Biological Chemistry
|
August 30, 1996
Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix
S Mundlos, D Chan, Y M Weng, et al.
The Journal of Biological Chemistry
|
July 5, 1989
A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta
J F Bateman, S R Lamande, H H Dahl, et al.
The Australian and New Zealand Journal of Surgery
|
February 1, 1986
Intravenous regional anaesthesia for the treatment of upper limb injuries in childhood
P L Turner, J B Batten, D Hjorth, et al.
The EMBO Journal
|
June 1, 1989
A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII
D Weil, M D'Alessio, F Ramirez, et al.
Journal of Medical Genetics
|
April 1, 1994
The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene
A J Carr, A A Chiodo, J M Hilton, et al.
Medinfo. MEDINFO
|
January 1, 1995
Identifying concepts in medical knowledge
S J Nelson, N E Olson, L Fuller, et al.
American Journal of Medical Genetics
|
March 1, 1986
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity
D O Sillence, K K Barlow, W G Cole, et al.
Journal of Palliative Medicine
|
April 30, 2005
Preferences for life-sustaining treatments in advance care planning and surrogate decision making
R A Pearlman, K C Cain, H Starks, et al.
Page
of 21