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Anna Diaz-Font

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

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Developmental Cell|December 17, 2008
How to shape cells and influence polarized protein traffickingAnna Diaz-Font, Philip L Beales
Blood Cells, Molecules & Diseases|September 9, 2006
RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseasesAnna Diaz-Font, Amparo Chabás, Daniel Grinberg, et al.
Blood Cells, Molecules & Diseases|September 16, 2003
Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher diseaseAnna Diaz-Font, Bru Cormand, Amparo Chabás, et al.
Human Genetics|April 28, 2005
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activityAnna Diaz-Font, Bru Cormand, Raül Santamaria, et al.
Human Molecular Genetics|May 30, 2013
Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerizationVictor Hernandez-Hernandez, Priyanka Pravincumar, Anna Diaz-Font, et al.
Plos Genetics|March 17, 2017
COLEC10 is mutated in 3MC patients and regulates early craniofacial developmentMustafa M Munye, Anna Diaz-Font, Louise Ocaka, et al.
Nature Genetics|March 11, 2008
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndromeCarmen C Leitch, Norann A Zaghloul, Erica E Davis, et al.
JCO Global Oncology|April 28, 2021
Trends in International Cancer Research Investment 2006-2018Rachel Abudu, Gauthier Bouche, Karima Bourougaa, et al.
Nature Genetics|January 25, 2011
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndromeCaroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, et al.
Nature Genetics|May 12, 2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesHemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al.
Pageof 1

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

Sort By:
Pageof 1
Developmental Cell|December 17, 2008
How to shape cells and influence polarized protein traffickingAnna Diaz-Font, Philip L Beales
Blood Cells, Molecules & Diseases|September 9, 2006
RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseasesAnna Diaz-Font, Amparo Chabás, Daniel Grinberg, et al.
Blood Cells, Molecules & Diseases|September 16, 2003
Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher diseaseAnna Diaz-Font, Bru Cormand, Amparo Chabás, et al.
Human Genetics|April 28, 2005
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activityAnna Diaz-Font, Bru Cormand, Raül Santamaria, et al.
Human Molecular Genetics|May 30, 2013
Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerizationVictor Hernandez-Hernandez, Priyanka Pravincumar, Anna Diaz-Font, et al.
Plos Genetics|March 17, 2017
COLEC10 is mutated in 3MC patients and regulates early craniofacial developmentMustafa M Munye, Anna Diaz-Font, Louise Ocaka, et al.
Nature Genetics|March 11, 2008
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndromeCarmen C Leitch, Norann A Zaghloul, Erica E Davis, et al.
JCO Global Oncology|April 28, 2021
Trends in International Cancer Research Investment 2006-2018Rachel Abudu, Gauthier Bouche, Karima Bourougaa, et al.
Nature Genetics|January 25, 2011
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndromeCaroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, et al.
Nature Genetics|May 12, 2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesHemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al.
Pageof 1