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L Bertsch

Showing results (21-30 of 28) with videos related to

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American Journal of Medical Genetics. Part A|February 9, 2019
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disabilityPantelis Nicola, Patrick R Blackburn, Kristen J Rasmussen, et al.
Journal of Lipid Research|August 21, 2025
Characterization of a PNLIP Variant Identified in Amish Pediatric Patients with Congenital Pancreatic Lipase DeficiencyGrace E Curry, Nicole L Bertsch, Tran Quach, et al.
Thrombosis Research|July 30, 2020
Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosaFilippo Pinto E Vairo, Sarah A Kroc, Nicole L Bertsch, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 31, 2018
The glycerol backbone of phospholipids derives from noncarbohydrate precursors in starved lung cancer cellsKatharina Leithner, Alexander Triebl, Martin Trötzmüller, et al.
European Journal of Human Genetics : EJHG|June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G Drivas, Dong Li, Divya Nair, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
Impact of integrated translational research on clinical exome sequencingEric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 6, 2023
Impact of integrated translational research on clinical exome sequencingEric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disordersElisa Cali, Tania Quirin, Clarissa Rocca, et al.
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Showing results (21-30 of 28) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 28 results.
American Journal of Medical Genetics. Part A|February 9, 2019
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disabilityPantelis Nicola, Patrick R Blackburn, Kristen J Rasmussen, et al.
Journal of Lipid Research|August 21, 2025
Characterization of a PNLIP Variant Identified in Amish Pediatric Patients with Congenital Pancreatic Lipase DeficiencyGrace E Curry, Nicole L Bertsch, Tran Quach, et al.
Thrombosis Research|July 30, 2020
Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosaFilippo Pinto E Vairo, Sarah A Kroc, Nicole L Bertsch, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 31, 2018
The glycerol backbone of phospholipids derives from noncarbohydrate precursors in starved lung cancer cellsKatharina Leithner, Alexander Triebl, Martin Trötzmüller, et al.
European Journal of Human Genetics : EJHG|June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G Drivas, Dong Li, Divya Nair, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
Impact of integrated translational research on clinical exome sequencingEric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 6, 2023
Impact of integrated translational research on clinical exome sequencingEric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disordersElisa Cali, Tania Quirin, Clarissa Rocca, et al.
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