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American Journal of Medical Genetics
|
February 5, 1998
Clinical phenotype of desmosterolosis
D R FitzPatrick, J W Keeling, M J Evans, et al.
American Journal of Human Genetics
|
November 1, 1994
Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate
H Feng, R Sassani, S P Bartlett, et al.
European Journal of Pediatrics
|
December 14, 1999
Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families
J Wang, L Spitz, R Hayward, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 10, 2001
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda
P T Christie, A Curley, M A Nesbit, et al.
Human Molecular Genetics
|
June 1, 1995
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome
M Oldridge, A O Wilkie, S F Slaney, et al.
European Journal of Human Genetics : EJHG
|
January 1, 1996
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus
L J Pulleyn, W Reardon, D Wilkes, et al.
British Medical Journal (Clinical Research Ed.)
|
September 21, 1985
First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13
R M Winter, K Harper, E Goldman, et al.
Human Molecular Genetics
|
December 6, 2001
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy
V Viprakasit, R J Gibbons, B C Broughton, et al.
American Journal of Medical Genetics
|
April 6, 1999
Acromelic frontonasal dysostosis
S F Slaney, F R Goodman, B L Eilers-Walsman, et al.
European Journal of Medical Genetics
|
July 11, 2006
European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities
I Feenstra, J Fang, D A Koolen, et al.
Page
of 22
Search research articles
Search
Showing results (201-210 of 219) with videos related to
Sort By:
Page
of 22
American Journal of Medical Genetics
|
February 5, 1998
Clinical phenotype of desmosterolosis
D R FitzPatrick, J W Keeling, M J Evans, et al.
American Journal of Human Genetics
|
November 1, 1994
Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate
H Feng, R Sassani, S P Bartlett, et al.
European Journal of Pediatrics
|
December 14, 1999
Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families
J Wang, L Spitz, R Hayward, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 10, 2001
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda
P T Christie, A Curley, M A Nesbit, et al.
Human Molecular Genetics
|
June 1, 1995
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome
M Oldridge, A O Wilkie, S F Slaney, et al.
European Journal of Human Genetics : EJHG
|
January 1, 1996
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus
L J Pulleyn, W Reardon, D Wilkes, et al.
British Medical Journal (Clinical Research Ed.)
|
September 21, 1985
First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13
R M Winter, K Harper, E Goldman, et al.
Human Molecular Genetics
|
December 6, 2001
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy
V Viprakasit, R J Gibbons, B C Broughton, et al.
American Journal of Medical Genetics
|
April 6, 1999
Acromelic frontonasal dysostosis
S F Slaney, F R Goodman, B L Eilers-Walsman, et al.
European Journal of Medical Genetics
|
July 11, 2006
European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities
I Feenstra, J Fang, D A Koolen, et al.
Page
of 22