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D L Rimoin

Showing results (271-280 of 284) with videos related to

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Nature Genetics|March 1, 1995
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3P L Tavormina, R Shiang, L M Thompson, et al.
American Journal of Medical Genetics|July 16, 1999
Small deletions in the type II collagen triple helix produce kniest dysplasiaD J Wilkin, A S Artz, S South, et al.
Nature Genetics|July 1, 1995
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein geneM D Briggs, S M Hoffman, L M King, et al.
Birth Defects Original Article Series|January 1, 1974
The Kniest syndromeC D Siggers, D L Rimoin, J P Dorst, et al.
Nature Genetics|January 1, 1996
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter geneA Superti-Furga, J Hästbacka, W R Wilcox, et al.
The Journal of Clinical Investigation|March 13, 1999
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosisW S Hou, D Brömme, Y Zhao, et al.
Lancet (London, England)|October 24, 1981
Close genetic linkage between diabetes mellitus and kidd blood groupS E Hodge, C E Anderson, K Neiswanger, et al.
American Journal of Medical Genetics|January 24, 1998
Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two familiesD Chitayat, A Grix, J W Balfe, et al.
American Journal of Medical Genetics|June 22, 1999
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3G A Bellus, M J Bamshad, K A Przylepa, et al.
Clinical Genetics|October 9, 2012
The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLAF S Ong, H Vakil, Y Xue, et al.
Pageof 29

Showing results (271-280 of 284) with videos related to

Sort By:
Pageof 29
Nature Genetics|March 1, 1995
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3P L Tavormina, R Shiang, L M Thompson, et al.
American Journal of Medical Genetics|July 16, 1999
Small deletions in the type II collagen triple helix produce kniest dysplasiaD J Wilkin, A S Artz, S South, et al.
Nature Genetics|July 1, 1995
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein geneM D Briggs, S M Hoffman, L M King, et al.
Birth Defects Original Article Series|January 1, 1974
The Kniest syndromeC D Siggers, D L Rimoin, J P Dorst, et al.
Nature Genetics|January 1, 1996
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter geneA Superti-Furga, J Hästbacka, W R Wilcox, et al.
The Journal of Clinical Investigation|March 13, 1999
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosisW S Hou, D Brömme, Y Zhao, et al.
Lancet (London, England)|October 24, 1981
Close genetic linkage between diabetes mellitus and kidd blood groupS E Hodge, C E Anderson, K Neiswanger, et al.
American Journal of Medical Genetics|January 24, 1998
Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two familiesD Chitayat, A Grix, J W Balfe, et al.
American Journal of Medical Genetics|June 22, 1999
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3G A Bellus, M J Bamshad, K A Przylepa, et al.
Clinical Genetics|October 9, 2012
The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLAF S Ong, H Vakil, Y Xue, et al.
Pageof 29