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D Steiner

Showing results (301-310 of 310) with videos related to

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Molecular Genetics and Metabolism|December 24, 2010
Research challenges in central nervous system manifestations of inborn errors of metabolismP I Dickson, A R Pariser, S C Groft, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Journal of Medical Genetics|February 25, 2016
Clinical course of sly syndrome (mucopolysaccharidosis type VII)Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 28, 2022
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescentsJessica Ezzell Hunter, Charisma L Jenkins, Joanna E Bulkley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2024
Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working GroupChristine M Pak, Marian J Gilmore, Joanna E Bulkley, et al.
Human Molecular Genetics|December 4, 2020
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and miceElla M M A Martin, Annabelle Enriquez, Duncan B Sparrow, et al.
Human Molecular Genetics|September 6, 2012
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagenUlrike Schwarze, Tim Cundy, Shawna M Pyott, et al.
American Journal of Human Genetics|December 7, 2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeKeith W McLarren, Tesa M Severson, Christèle du Souich, et al.
Biorxiv : the Preprint Server for Biology|February 23, 2026
A scalable approach to resolving variants of uncertain significanceMalvika Tejura, Yile Chen, Abbye E McEwen, et al.
Royal Society Open Science|March 20, 2025
The reliability of replications: a study in computational reproductionsNate Breznau, Eike Mark Rinke, Alexander Wuttke, et al.
Pageof 31

Showing results (301-310 of 310) with videos related to

Sort By:
Pageof 31
You have reached the last page of results.This site can display upto 310 results.
Molecular Genetics and Metabolism|December 24, 2010
Research challenges in central nervous system manifestations of inborn errors of metabolismP I Dickson, A R Pariser, S C Groft, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Journal of Medical Genetics|February 25, 2016
Clinical course of sly syndrome (mucopolysaccharidosis type VII)Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 28, 2022
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescentsJessica Ezzell Hunter, Charisma L Jenkins, Joanna E Bulkley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2024
Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working GroupChristine M Pak, Marian J Gilmore, Joanna E Bulkley, et al.
Human Molecular Genetics|December 4, 2020
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and miceElla M M A Martin, Annabelle Enriquez, Duncan B Sparrow, et al.
Human Molecular Genetics|September 6, 2012
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagenUlrike Schwarze, Tim Cundy, Shawna M Pyott, et al.
American Journal of Human Genetics|December 7, 2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeKeith W McLarren, Tesa M Severson, Christèle du Souich, et al.
Biorxiv : the Preprint Server for Biology|February 23, 2026
A scalable approach to resolving variants of uncertain significanceMalvika Tejura, Yile Chen, Abbye E McEwen, et al.
Royal Society Open Science|March 20, 2025
The reliability of replications: a study in computational reproductionsNate Breznau, Eike Mark Rinke, Alexander Wuttke, et al.
Pageof 31