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Anthony Vandersteen

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

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American Journal of Human Genetics|February 8, 2020
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model OrganismsKym M Boycott, Philippe M Campeau, Heather E Howley, et al.
American Journal of Human Genetics|October 18, 2016
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of ComplementInes Kapferer-Seebacher, Melanie Pepin, Roland Werner, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 18, 2017
The 2017 international classification of the Ehlers-Danlos syndromesFransiska Malfait, Clair Francomano, Peter Byers, et al.
BMC Pediatrics|January 12, 2024
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiencyRyan Iverson, Monica Taljaard, Michael T Geraghty, et al.
Clinical Immunology (Orlando, Fla.)|October 6, 2024
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysisEmil E Vorsteveld, Caspar I Van der Made, Sanne P Smeekens, et al.
Orphanet Journal of Rare Diseases|April 12, 2020
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research NetworkKylie Tingley, Monica Lamoureux, Michael Pugliese, et al.
Plos Genetics|March 28, 2017
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignanciesRocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2019
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiencyAsh Zawerton, Cyril Mignot, Ashley Sigafoos, 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 Human Genetics|February 8, 2020
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model OrganismsKym M Boycott, Philippe M Campeau, Heather E Howley, et al.
American Journal of Human Genetics|October 18, 2016
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of ComplementInes Kapferer-Seebacher, Melanie Pepin, Roland Werner, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 18, 2017
The 2017 international classification of the Ehlers-Danlos syndromesFransiska Malfait, Clair Francomano, Peter Byers, et al.
BMC Pediatrics|January 12, 2024
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiencyRyan Iverson, Monica Taljaard, Michael T Geraghty, et al.
Clinical Immunology (Orlando, Fla.)|October 6, 2024
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysisEmil E Vorsteveld, Caspar I Van der Made, Sanne P Smeekens, et al.
Orphanet Journal of Rare Diseases|April 12, 2020
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research NetworkKylie Tingley, Monica Lamoureux, Michael Pugliese, et al.
Plos Genetics|March 28, 2017
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignanciesRocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2019
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiencyAsh Zawerton, Cyril Mignot, Ashley Sigafoos, et al.
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