Publications by authors named "D L Rimoin"

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Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
Deborah Krakow, Daniel H Cohn, William R Wilcox, Grace J Noh, Leslie J Raffel, David L Rimoin

Am J Med Genet A· October 2016

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Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism.
Daniel J Wendt, Melita Dvorak-Ewell, Sherry Bullens, Florence Lorget, Sean M Bell, David L Rimoin

J Pharmacol Exp Ther· April 2015

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Arterial tortuosity in patients with Filamin A- associated vascular aneurysms.
Eyal Reinstein, Shaine A Morris, David L Rimoin, Stephen P Robertson, Ronald V Lacro

Am J Med Genet A· November 2014

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FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
Yuan Xue, Angela Sun, P Betty Mekikian, Jorge Martin, David L Rimoin

Mol Genet Genomic Med· November 2014

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Echocardiographic findings in patients with spontaneous CSF leak.
Allen L Pimienta, David L Rimoin, Mitchel Pariani, Wouter I Schievink, Eyal Reinstein

J Neurol· October 2014

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