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A Parisi

Showing results (301-310 of 322) with videos related to

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Molecular Genetics and Metabolism|June 29, 2013
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolismKathryn M Camp, Michele A Lloyd-Puryear, Lynne Yao, et al.
Therapeutic Advances in Rare Disease|March 26, 2026
Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task forceMelissa A Parisi, Adam L Hartman, Mary Catherine V Letinturier, et al.
Annali Di Igiene : Medicina Preventiva E Di Comunita|July 5, 2022
Active breaks: a strategy to counteract sedentary behaviors for Health Promoting Schools. A discussion on their implementation in ItalyL Dallolio, F Gallè, A Masini, et al.
Journal of Medical Genetics|July 4, 2009
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)D Doherty, M A Parisi, L S Finn, et al.
Nature Genetics|June 15, 2007
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeHeleen H Arts, Dan Doherty, Sylvia E C van Beersum, et al.
Molecular Genetics and Metabolism|August 13, 2011
Down syndrome: national conference on patient registries, research databases, and biobanksMary Lou Oster-Granite, Melissa A Parisi, Leonard Abbeduto, et al.
American Journal of Medical Genetics. Part A|November 12, 2019
Healthcare recommendations for Joubert syndromeRuxandra Bachmann-Gagescu, Jennifer C Dempsey, Sara Bulgheroni, et al.
Journal of Medical Genetics|June 21, 2015
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneityR Bachmann-Gagescu, J C Dempsey, I G Phelps, et al.
Pediatrics|May 1, 2022
Health Supervision for Children and Adolescents With Down SyndromeMarilyn J Bull, Tracy Trotter, Stephanie L Santoro, et al.
Journal of Medical Genetics|October 23, 2015
MKS1 regulates ciliary INPP5E levels in Joubert syndromeGisela G Slaats, Christine R Isabella, Hester Y Kroes, et al.
Pageof 33

Showing results (301-310 of 322) with videos related to

Sort By:
Pageof 33
Molecular Genetics and Metabolism|June 29, 2013
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolismKathryn M Camp, Michele A Lloyd-Puryear, Lynne Yao, et al.
Therapeutic Advances in Rare Disease|March 26, 2026
Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task forceMelissa A Parisi, Adam L Hartman, Mary Catherine V Letinturier, et al.
Annali Di Igiene : Medicina Preventiva E Di Comunita|July 5, 2022
Active breaks: a strategy to counteract sedentary behaviors for Health Promoting Schools. A discussion on their implementation in ItalyL Dallolio, F Gallè, A Masini, et al.
Journal of Medical Genetics|July 4, 2009
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)D Doherty, M A Parisi, L S Finn, et al.
Nature Genetics|June 15, 2007
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeHeleen H Arts, Dan Doherty, Sylvia E C van Beersum, et al.
Molecular Genetics and Metabolism|August 13, 2011
Down syndrome: national conference on patient registries, research databases, and biobanksMary Lou Oster-Granite, Melissa A Parisi, Leonard Abbeduto, et al.
American Journal of Medical Genetics. Part A|November 12, 2019
Healthcare recommendations for Joubert syndromeRuxandra Bachmann-Gagescu, Jennifer C Dempsey, Sara Bulgheroni, et al.
Journal of Medical Genetics|June 21, 2015
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneityR Bachmann-Gagescu, J C Dempsey, I G Phelps, et al.
Pediatrics|May 1, 2022
Health Supervision for Children and Adolescents With Down SyndromeMarilyn J Bull, Tracy Trotter, Stephanie L Santoro, et al.
Journal of Medical Genetics|October 23, 2015
MKS1 regulates ciliary INPP5E levels in Joubert syndromeGisela G Slaats, Christine R Isabella, Hester Y Kroes, et al.
Pageof 33