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David L Rimoin

Showing results (21-30 of 78) with videos related to

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European Journal of Human Genetics : EJHG|July 11, 2002
Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRPMaaret Ridanpää, Pertti Sistonen, Susanna Rockas, et al.
Journal of Neurology|July 26, 2014
Echocardiographic findings in patients with spontaneous CSF leakAllen L Pimienta, David L Rimoin, Mitchel Pariani, et al.
European Journal of Medical Genetics|July 12, 2012
Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome: presentation of a rare manifestation and review of the literatureEyal Reinstein, Mark Pimentel, Mitchel Pariani, et al.
American Journal of Medical Genetics. Part A|May 16, 2009
The Erlenmeyer flask bone deformity in the skeletal dysplasiasMaha A Faden, Deborah Krakow, Fatih Ezgu, et al.
American Journal of Medical Genetics. Part A|May 20, 2011
Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigreeEyal Reinstein, Raymond Y Wang, Ling Zhan, et al.
Journal of Neurosurgery|December 25, 2007
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four casesMoise Danielpour, William R Wilcox, Yasemin Alanay, et al.
American Journal of Medical Genetics. Part A|June 29, 2012
Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopiaEyal Reinstein, Bernard S Chang, Stephen P Robertson, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
Arterial tortuosity in patients with Filamin A- associated vascular aneurysmsEyal Reinstein, Shaine A Morris, David L Rimoin, et al.
Annals of the New York Academy of Sciences|December 7, 2007
The skeletal dysplasias: clinical-molecular correlationsDavid L Rimoin, Daniel Cohn, Deborah Krakow, et al.
European Journal of Human Genetics : EJHG|June 29, 2012
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue featuresEyal Reinstein, Celia Dawn DeLozier, Ziv Simon, et al.
Pageof 8

Showing results (21-30 of 78) with videos related to

Sort By:
Pageof 8
European Journal of Human Genetics : EJHG|July 11, 2002
Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRPMaaret Ridanpää, Pertti Sistonen, Susanna Rockas, et al.
Journal of Neurology|July 26, 2014
Echocardiographic findings in patients with spontaneous CSF leakAllen L Pimienta, David L Rimoin, Mitchel Pariani, et al.
European Journal of Medical Genetics|July 12, 2012
Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome: presentation of a rare manifestation and review of the literatureEyal Reinstein, Mark Pimentel, Mitchel Pariani, et al.
American Journal of Medical Genetics. Part A|May 16, 2009
The Erlenmeyer flask bone deformity in the skeletal dysplasiasMaha A Faden, Deborah Krakow, Fatih Ezgu, et al.
American Journal of Medical Genetics. Part A|May 20, 2011
Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigreeEyal Reinstein, Raymond Y Wang, Ling Zhan, et al.
Journal of Neurosurgery|December 25, 2007
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four casesMoise Danielpour, William R Wilcox, Yasemin Alanay, et al.
American Journal of Medical Genetics. Part A|June 29, 2012
Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopiaEyal Reinstein, Bernard S Chang, Stephen P Robertson, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
Arterial tortuosity in patients with Filamin A- associated vascular aneurysmsEyal Reinstein, Shaine A Morris, David L Rimoin, et al.
Annals of the New York Academy of Sciences|December 7, 2007
The skeletal dysplasias: clinical-molecular correlationsDavid L Rimoin, Daniel Cohn, Deborah Krakow, et al.
European Journal of Human Genetics : EJHG|June 29, 2012
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue featuresEyal Reinstein, Celia Dawn DeLozier, Ziv Simon, et al.
Pageof 8