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Mariel Alders

Showing results (1-10 of 11) with videos related to

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The Journal of Pediatrics|June 24, 2008
Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasiaJet Bliek, Saskia Maas, Mariel Alders, et al.
Journal of Child Neurology|September 15, 2016
Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement DisorderLeonie A Menke, Marc Engelen, Mariel Alders, et al.
Blood|March 17, 2005
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationshipTaco W Kuijpers, Mariel Alders, Anton T J Tool, et al.
Pediatrics|October 3, 2007
Contribution of inherited heart disease to sudden cardiac death in childhoodNynke Hofman, Hanno L Tan, Sally-Ann Clur, et al.
Circulation|May 26, 2004
Mutation in the KCNQ1 gene leading to the short QT-interval syndromeChloé Bellocq, Antoni C G van Ginneken, Connie R Bezzina, et al.
Pediatric Cardiology|December 4, 2009
The role of the epinephrine test in the diagnosis and management of children suspected of having congenital long QT syndromeSally-Ann B Clur, Priya Chockalingam, Luc H Filippini, et al.
American Journal of Medical Genetics|October 12, 2002
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a reviewInge D C Van Balkom, Mariel Alders, Judith Allanson, et al.
Journal of Medical Genetics|October 17, 2018
Specific combinations of biallelic <i>POLR3A</i> variants cause Wiedemann-Rautenstrauch syndromeStefano Paolacci, Yun Li, Emanuele Agolini, et al.
Brain : a Journal of Neurology|April 15, 2021
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathyElena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
The Journal of Pediatrics|June 24, 2008
Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasiaJet Bliek, Saskia Maas, Mariel Alders, et al.
Journal of Child Neurology|September 15, 2016
Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement DisorderLeonie A Menke, Marc Engelen, Mariel Alders, et al.
Blood|March 17, 2005
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationshipTaco W Kuijpers, Mariel Alders, Anton T J Tool, et al.
Pediatrics|October 3, 2007
Contribution of inherited heart disease to sudden cardiac death in childhoodNynke Hofman, Hanno L Tan, Sally-Ann Clur, et al.
Circulation|May 26, 2004
Mutation in the KCNQ1 gene leading to the short QT-interval syndromeChloé Bellocq, Antoni C G van Ginneken, Connie R Bezzina, et al.
Pediatric Cardiology|December 4, 2009
The role of the epinephrine test in the diagnosis and management of children suspected of having congenital long QT syndromeSally-Ann B Clur, Priya Chockalingam, Luc H Filippini, et al.
American Journal of Medical Genetics|October 12, 2002
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a reviewInge D C Van Balkom, Mariel Alders, Judith Allanson, et al.
Journal of Medical Genetics|October 17, 2018
Specific combinations of biallelic <i>POLR3A</i> variants cause Wiedemann-Rautenstrauch syndromeStefano Paolacci, Yun Li, Emanuele Agolini, et al.
Brain : a Journal of Neurology|April 15, 2021
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathyElena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Pageof 2