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Andrew Parrish

Showing results (11-20 of 22) with videos related to

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International Journal of Environmental Research and Public Health|January 20, 2021
Eastern Cape Healthcare Workers Acquisition of SARS-CoV-2 (ECHAS): Cross-Sectional (Nested Cohort) Study ProtocolOladele Vincent Adeniyi, David Stead, Mandisa Singata-Madliki, et al.
European Journal of Human Genetics : EJHG|May 21, 2025
Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsyErina Sasaki, Philip Millington, Taisiia Sazonova, et al.
Pediatric Transplantation|June 23, 2017
Epstein-Barr viral loads do not predict post-transplant lymphoproliferative disorder in pediatric lung transplant recipients: A multicenter prospective cohort studyAndrew Parrish, Matthew Fenchel, Gregory A Storch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 20, 2025
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation StudyJoanna Kaplanis, Dasha Deen, Prasanth Sivakumar, et al.
American Journal of Human Genetics|August 2, 2007
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effectsSian Ellard, Sarah E Flanagan, Christophe A Girard, et al.
Diabetes|December 29, 2007
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthoodEmma L Edghill, Sarah E Flanagan, Ann-Marie Patch, et al.
Journal of Medical Genetics|September 26, 2024
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable accessSian Ellard, Sian Morgan, Sarah L Wynn, et al.
American Journal of Human Genetics|February 1, 2020
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial MetabolismAdam C Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, et al.
American Journal of Human Genetics|December 26, 2017
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow SyndromeJanson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, et al.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
International Journal of Environmental Research and Public Health|January 20, 2021
Eastern Cape Healthcare Workers Acquisition of SARS-CoV-2 (ECHAS): Cross-Sectional (Nested Cohort) Study ProtocolOladele Vincent Adeniyi, David Stead, Mandisa Singata-Madliki, et al.
European Journal of Human Genetics : EJHG|May 21, 2025
Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsyErina Sasaki, Philip Millington, Taisiia Sazonova, et al.
Pediatric Transplantation|June 23, 2017
Epstein-Barr viral loads do not predict post-transplant lymphoproliferative disorder in pediatric lung transplant recipients: A multicenter prospective cohort studyAndrew Parrish, Matthew Fenchel, Gregory A Storch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 20, 2025
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation StudyJoanna Kaplanis, Dasha Deen, Prasanth Sivakumar, et al.
American Journal of Human Genetics|August 2, 2007
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effectsSian Ellard, Sarah E Flanagan, Christophe A Girard, et al.
Diabetes|December 29, 2007
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthoodEmma L Edghill, Sarah E Flanagan, Ann-Marie Patch, et al.
Journal of Medical Genetics|September 26, 2024
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable accessSian Ellard, Sian Morgan, Sarah L Wynn, et al.
American Journal of Human Genetics|February 1, 2020
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial MetabolismAdam C Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, et al.
American Journal of Human Genetics|December 26, 2017
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow SyndromeJanson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, et al.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
Pageof 3