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Showing results (941-950 of 959) with videos related to

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RMD Open|November 8, 2018
Systemic sclerosis: state of the art on clinical practice guidelinesVanessa Smith, Carlo Alberto Scirè, Rosaria Talarico, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2021
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2Víctor Faundes, Stephanie Goh, Rhoda Akilapa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait maculesGioia Mastromoro, Claudia Santoro, Marialetizia Motta, et al.
American Journal of Human Genetics|February 4, 2018
Functional Dysregulation of CDC42 Causes Diverse Developmental PhenotypesSimone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, et al.
Human Molecular Genetics|April 8, 2014
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisElisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, et al.
Journal of Medicinal Chemistry|August 26, 2025
Discovery of Gut-Restricted PRMT5 Inhibitors to Intercept Colorectal Cancer in Patients with Genetic Loss of Tumor Suppressor Adenomatous Polyposis ColiFabian Hulpia, Wim Schepens, Susan Lepri, et al.
International Journal of Epidemiology|January 2, 2016
Using observational data to emulate a randomized trial of dynamic treatment-switching strategies: an application to antiretroviral therapyLauren E Cain, Michael S Saag, Maya Petersen, et al.
Journal of Scleroderma and Related Disorders|February 9, 2024
Practice pattern for the use of intravenous iloprost for the treatment of peripheral vasculopathy in systemic sclerosis: A case-control study from the Italian national multicenter "SPRING" (Systemic Sclerosis Progression InvestiGation) RegistryValeria Riccieri, Greta Pellegrino, Edoardo Cipolletta, et al.
European Journal of Clinical Investigation|July 4, 2025
First-line diagnostic tests to intercept primary heart involvement in systemic sclerosis: Clinical associations from the SPRING-SIR registryAntonio Tonutti, Francesca Motta, Rossella De Angelis, et al.
Journal of Translational Autoimmunity|June 29, 2026
The clinical profile of systemic sclerosis without a 'scleroderma pattern' at nailfold capillaroscopy: results from the multicenter SPRING registry of the Italian Society of RheumatologyAntonio Tonutti, Maria De Santis, Francesca Motta, et al.
Pageof 96

Showing results (941-950 of 959) with videos related to

Sort By:
Pageof 96
RMD Open|November 8, 2018
Systemic sclerosis: state of the art on clinical practice guidelinesVanessa Smith, Carlo Alberto Scirè, Rosaria Talarico, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2021
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2Víctor Faundes, Stephanie Goh, Rhoda Akilapa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait maculesGioia Mastromoro, Claudia Santoro, Marialetizia Motta, et al.
American Journal of Human Genetics|February 4, 2018
Functional Dysregulation of CDC42 Causes Diverse Developmental PhenotypesSimone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, et al.
Human Molecular Genetics|April 8, 2014
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisElisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, et al.
Journal of Medicinal Chemistry|August 26, 2025
Discovery of Gut-Restricted PRMT5 Inhibitors to Intercept Colorectal Cancer in Patients with Genetic Loss of Tumor Suppressor Adenomatous Polyposis ColiFabian Hulpia, Wim Schepens, Susan Lepri, et al.
International Journal of Epidemiology|January 2, 2016
Using observational data to emulate a randomized trial of dynamic treatment-switching strategies: an application to antiretroviral therapyLauren E Cain, Michael S Saag, Maya Petersen, et al.
Journal of Scleroderma and Related Disorders|February 9, 2024
Practice pattern for the use of intravenous iloprost for the treatment of peripheral vasculopathy in systemic sclerosis: A case-control study from the Italian national multicenter "SPRING" (Systemic Sclerosis Progression InvestiGation) RegistryValeria Riccieri, Greta Pellegrino, Edoardo Cipolletta, et al.
European Journal of Clinical Investigation|July 4, 2025
First-line diagnostic tests to intercept primary heart involvement in systemic sclerosis: Clinical associations from the SPRING-SIR registryAntonio Tonutti, Francesca Motta, Rossella De Angelis, et al.
Journal of Translational Autoimmunity|June 29, 2026
The clinical profile of systemic sclerosis without a 'scleroderma pattern' at nailfold capillaroscopy: results from the multicenter SPRING registry of the Italian Society of RheumatologyAntonio Tonutti, Maria De Santis, Francesca Motta, et al.
Pageof 96