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Showing results (41-50 of 46) with videos related to

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American Journal of Human Genetics|November 4, 2017
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"Chae Syng Lee, He Fu, Nissan Baratang, et al.
Journal of Medical Genetics|January 8, 2008
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesisB W M van Bon, D A Koolen, R Borgatti, et al.
Circulation. Cardiovascular Genetics|August 10, 2017
<i>Lamin A/C</i>-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder MutationEdgar T Hoorntje, Ilse A Bollen, Daniela Q Barge-Schaapveld, et al.
Nature Communications|May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanismsKarsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, et al.
Clinical Genetics|January 17, 2013
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype studyP Makrythanasis, B W van Bon, M Steehouwer, et al.
Nature Genetics|November 15, 2016
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomaliesClaire Redin, Harrison Brand, Ryan L Collins, et al.
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Showing results (41-50 of 46) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 46 results.
American Journal of Human Genetics|November 4, 2017
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"Chae Syng Lee, He Fu, Nissan Baratang, et al.
Journal of Medical Genetics|January 8, 2008
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesisB W M van Bon, D A Koolen, R Borgatti, et al.
Circulation. Cardiovascular Genetics|August 10, 2017
<i>Lamin A/C</i>-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder MutationEdgar T Hoorntje, Ilse A Bollen, Daniela Q Barge-Schaapveld, et al.
Nature Communications|May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanismsKarsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, et al.
Clinical Genetics|January 17, 2013
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype studyP Makrythanasis, B W van Bon, M Steehouwer, et al.
Nature Genetics|November 15, 2016
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomaliesClaire Redin, Harrison Brand, Ryan L Collins, et al.
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