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Nicholas Stong

Showing results (1-10 of 53) with videos related to

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American Journal of Medical Genetics. Part A|May 24, 2020
A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndromeJennifer A Sullivan, Nicholas Stong, Evan H Baugh, et al.
Cold Spring Harbor Molecular Case Studies|January 12, 2019
Late-onset pattern macular dystrophy mimicking <i>ABCA4</i> and <i>PRPH2</i> disease is caused by a homozygous frameshift mutation in <i>ROM1</i>Chu Jian Ma, Winston Lee, Nicholas Stong, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|February 12, 2020
Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutationLinh Tran, Jason Richards, Marie McDonald, et al.
American Journal of Human Genetics|January 29, 2019
Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional IntoleranceTristan J Hayeck, Nicholas Stong, Charles J Wolock, et al.
The Journal of Pediatrics|November 28, 2017
A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis BullosaVeronica Rotemberg, Maria Garzon, Christine Lauren, et al.
BMC Medical Genomics|December 19, 2021
Integrative multi-omics identifies high risk multiple myeloma subgroup associated with significant DNA loss and dysregulated DNA repair and cell cycle pathwaysMaría Ortiz-Estévez, Fadi Towfic, Erin Flynt, et al.
Ophthalmic Genetics|October 3, 2019
Modification of the <i>PROM1</i> disease phenotype by a mutation in <i>ABCA4</i>Winston Lee, Maarjaliis Paavo, Jana Zernant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 31, 2019
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variantsCharles J Wolock, Nicholas Stong, Chu Jian Ma, et al.
Blood|August 19, 2022
The location of the t(4;14) translocation breakpoint within the NSD2 gene identifies a subset of patients with high-risk NDMMNicholas Stong, María Ortiz-Estévez, Fadi Towfic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnosesKelly Schoch, Queenie K-G Tan, Nicholas Stong, et al.
Pageof 6

Showing results (1-10 of 53) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|May 24, 2020
A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndromeJennifer A Sullivan, Nicholas Stong, Evan H Baugh, et al.
Cold Spring Harbor Molecular Case Studies|January 12, 2019
Late-onset pattern macular dystrophy mimicking <i>ABCA4</i> and <i>PRPH2</i> disease is caused by a homozygous frameshift mutation in <i>ROM1</i>Chu Jian Ma, Winston Lee, Nicholas Stong, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|February 12, 2020
Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutationLinh Tran, Jason Richards, Marie McDonald, et al.
American Journal of Human Genetics|January 29, 2019
Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional IntoleranceTristan J Hayeck, Nicholas Stong, Charles J Wolock, et al.
The Journal of Pediatrics|November 28, 2017
A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis BullosaVeronica Rotemberg, Maria Garzon, Christine Lauren, et al.
BMC Medical Genomics|December 19, 2021
Integrative multi-omics identifies high risk multiple myeloma subgroup associated with significant DNA loss and dysregulated DNA repair and cell cycle pathwaysMaría Ortiz-Estévez, Fadi Towfic, Erin Flynt, et al.
Ophthalmic Genetics|October 3, 2019
Modification of the <i>PROM1</i> disease phenotype by a mutation in <i>ABCA4</i>Winston Lee, Maarjaliis Paavo, Jana Zernant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 31, 2019
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variantsCharles J Wolock, Nicholas Stong, Chu Jian Ma, et al.
Blood|August 19, 2022
The location of the t(4;14) translocation breakpoint within the NSD2 gene identifies a subset of patients with high-risk NDMMNicholas Stong, María Ortiz-Estévez, Fadi Towfic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnosesKelly Schoch, Queenie K-G Tan, Nicholas Stong, et al.
Pageof 6