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Tony Roscioli

Showing results (1-10 of 143) with videos related to

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The Australasian Journal of Dermatology|October 13, 2006
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutationAlexandra Varol, Karen Stapleton, Tony Roscioli
NPJ Genomic Medicine|December 22, 2017
Prioritising the application of genomic medicineBrett Doble, Deborah J Schofield, Tony Roscioli, et al.
Bioinformatics (Oxford, England)|December 19, 2018
Seave: a comprehensive web platform for storing and interrogating human genomic variationVelimir Gayevskiy, Tony Roscioli, Marcel E Dinger, et al.
Molecular Syndromology|June 22, 2018
Atypical Skin Manifestations in <i>FGFR2</i>-Related Craniosynostosis Syndromes Broaden the Phenotypic SpectrumShannon LeBlanc, David David, Alison Colley, et al.
Clinical Immunology (Orlando, Fla.)|September 18, 2012
Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110Tiffany Wang, Peck Ong, Tony Roscioli, et al.
Nature Clinical Practice. Endocrinology & Metabolism|February 21, 2009
Generalized arterial calcification of infancy: treatment with bisphosphonatesKim A Ramjan, Tony Roscioli, Frank Rutsch, et al.
Neural Plasticity|June 22, 2017
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular AtrophyHooi Ling Teoh, Kate Carey, Hugo Sampaio, et al.
American Journal of Medical Genetics. Part A|April 18, 2020
CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer riskShannon LeBlanc, Dildeepa Naveen, Eric Haan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 22, 2013
Genomic approaches for studying craniofacial disordersKriti D Khandelwal, Hans van Bokhoven, Tony Roscioli, et al.
European Journal of Medical Genetics|May 16, 2019
Personal genomic screening: How best to facilitate preparedness of future clientsJane Fleming, Bronwyn Terrill, Marie Dziadek, et al.
Pageof 15

Showing results (1-10 of 143) with videos related to

Sort By:
Pageof 15
The Australasian Journal of Dermatology|October 13, 2006
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutationAlexandra Varol, Karen Stapleton, Tony Roscioli
NPJ Genomic Medicine|December 22, 2017
Prioritising the application of genomic medicineBrett Doble, Deborah J Schofield, Tony Roscioli, et al.
Bioinformatics (Oxford, England)|December 19, 2018
Seave: a comprehensive web platform for storing and interrogating human genomic variationVelimir Gayevskiy, Tony Roscioli, Marcel E Dinger, et al.
Molecular Syndromology|June 22, 2018
Atypical Skin Manifestations in <i>FGFR2</i>-Related Craniosynostosis Syndromes Broaden the Phenotypic SpectrumShannon LeBlanc, David David, Alison Colley, et al.
Clinical Immunology (Orlando, Fla.)|September 18, 2012
Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110Tiffany Wang, Peck Ong, Tony Roscioli, et al.
Nature Clinical Practice. Endocrinology & Metabolism|February 21, 2009
Generalized arterial calcification of infancy: treatment with bisphosphonatesKim A Ramjan, Tony Roscioli, Frank Rutsch, et al.
Neural Plasticity|June 22, 2017
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular AtrophyHooi Ling Teoh, Kate Carey, Hugo Sampaio, et al.
American Journal of Medical Genetics. Part A|April 18, 2020
CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer riskShannon LeBlanc, Dildeepa Naveen, Eric Haan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 22, 2013
Genomic approaches for studying craniofacial disordersKriti D Khandelwal, Hans van Bokhoven, Tony Roscioli, et al.
European Journal of Medical Genetics|May 16, 2019
Personal genomic screening: How best to facilitate preparedness of future clientsJane Fleming, Bronwyn Terrill, Marie Dziadek, et al.
Pageof 15