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European Journal of Human Genetics : EJHG
|
August 22, 2000
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes
D Krakow, D Salazar, W R Wilcox, et al.
American Journal of Medical Genetics
|
December 8, 1998
Thanatophoric dysplasia type I with syndactyly
S G Brodie, H Kitoh, M Lipson, et al.
Cellular and Molecular Life Sciences : CMLS
|
October 14, 2008
High molecular weight FGF2: the biology of a nuclear growth factor
K Chlebova, V Bryja, P Dvorak, et al.
Human Molecular Genetics
|
January 15, 1999
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
E Délot, L M King, M D Briggs, et al.
Human Mutation
|
February 12, 2000
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online
H Kitoh, S G Brodie, K G Kupke, et al.
The Journal of Biological Chemistry
|
October 3, 1998
Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in culture
E Délot, S G Brodie, L M King, et al.
Obstetrics and Gynecology
|
April 1, 1989
Reduced fetal platelet counts in pregnancies with abnormal Doppler umbilical flow waveforms
G R Wilcox, B J Trudinger, C M Cook, et al.
American Journal of Medical Genetics
|
May 8, 1999
Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies
S G Brodie, R S Lachman, M M McGovern, et al.
Journal of Medical Genetics
|
February 5, 2002
A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases
J M Pace, D Chitayat, M Atkinson, et al.
American Journal of Medical Genetics
|
December 5, 2000
Uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder
R Quadrelli, A Vaglio, S Reyno, et al.
Page
of 6
Search research articles
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Showing results (11-20 of 51) with videos related to
Sort By:
Page
of 6
European Journal of Human Genetics : EJHG
|
August 22, 2000
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes
D Krakow, D Salazar, W R Wilcox, et al.
American Journal of Medical Genetics
|
December 8, 1998
Thanatophoric dysplasia type I with syndactyly
S G Brodie, H Kitoh, M Lipson, et al.
Cellular and Molecular Life Sciences : CMLS
|
October 14, 2008
High molecular weight FGF2: the biology of a nuclear growth factor
K Chlebova, V Bryja, P Dvorak, et al.
Human Molecular Genetics
|
January 15, 1999
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
E Délot, L M King, M D Briggs, et al.
Human Mutation
|
February 12, 2000
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online
H Kitoh, S G Brodie, K G Kupke, et al.
The Journal of Biological Chemistry
|
October 3, 1998
Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in culture
E Délot, S G Brodie, L M King, et al.
Obstetrics and Gynecology
|
April 1, 1989
Reduced fetal platelet counts in pregnancies with abnormal Doppler umbilical flow waveforms
G R Wilcox, B J Trudinger, C M Cook, et al.
American Journal of Medical Genetics
|
May 8, 1999
Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies
S G Brodie, R S Lachman, M M McGovern, et al.
Journal of Medical Genetics
|
February 5, 2002
A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases
J M Pace, D Chitayat, M Atkinson, et al.
American Journal of Medical Genetics
|
December 5, 2000
Uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder
R Quadrelli, A Vaglio, S Reyno, et al.
Page
of 6