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Stephen Robertson

Showing results (31-40 of 39) with videos related to

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Molecular Genetics and Metabolism|May 31, 2024
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific populationIsaac Bernhardt, Leah E Frajman, Bryony Ryder, et al.
American Journal of Medical Genetics. Part A|September 11, 2010
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic featuresSheila Unger, Ekkehart Lausch, Antonio Rossi, et al.
American Journal of Human Genetics|July 22, 2025
The evolution of health data ecosystems: An international surveyJordan P Lerner-Ellis, E Magda Price, Shazia Subhani, et al.
Nature Genetics|January 22, 2022
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.
Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.
European Journal of Human Genetics : EJHG|December 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorderCosima M Schmid, Anne Gregor, Anna Ruiz, et al.
HGG Advances|January 20, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disordersMichael A Levy, Haley McConkey, Jennifer Kerkhof, et al.
Human Mutation|July 29, 2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disordersMichael A Levy, Raissa Relator, Haley McConkey, et al.
The Journal of Clinical Investigation|September 18, 2025
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasiaAymeric Masson, Julien Paccaud, Martina Orefice, et al.
Pageof 4

Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
Molecular Genetics and Metabolism|May 31, 2024
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific populationIsaac Bernhardt, Leah E Frajman, Bryony Ryder, et al.
American Journal of Medical Genetics. Part A|September 11, 2010
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic featuresSheila Unger, Ekkehart Lausch, Antonio Rossi, et al.
American Journal of Human Genetics|July 22, 2025
The evolution of health data ecosystems: An international surveyJordan P Lerner-Ellis, E Magda Price, Shazia Subhani, et al.
Nature Genetics|January 22, 2022
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.
Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.
European Journal of Human Genetics : EJHG|December 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorderCosima M Schmid, Anne Gregor, Anna Ruiz, et al.
HGG Advances|January 20, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disordersMichael A Levy, Haley McConkey, Jennifer Kerkhof, et al.
Human Mutation|July 29, 2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disordersMichael A Levy, Raissa Relator, Haley McConkey, et al.
The Journal of Clinical Investigation|September 18, 2025
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasiaAymeric Masson, Julien Paccaud, Martina Orefice, et al.
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