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Neda Zadeh

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

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American Journal of Human Genetics|July 8, 2017
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival FibromatosisYavuz Bayram, Janson J White, Nursel Elcioglu, et al.
American Journal of Medical Genetics. Part A|May 29, 2021
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23William Burns, Lynne M Bird, Delphine Heron, et al.
Human Genetics|September 30, 2016
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart diseaseLijiang Ma, Yavuz Bayram, Heather M McLaughlin, et al.
American Journal of Human Genetics|June 5, 2021
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of careDavid Dimmock, Sara Caylor, Bryce Waldman, et al.
JAMA Pediatrics|September 27, 2021
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial, Ian D Krantz, Livija Medne, et al.
Genome Medicine|June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMargot A Cousin, Emma L Veale, Nikita R Dsouza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalitiesElisa Cali, Mohnish Suri, Marcello Scala, et al.
Epilepsia|July 2, 2024
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variantsClaudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, et al.
Science Translational Medicine|May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon productionFrédéric Ebstein, Sébastien Küry, Victoria Most, et al.
American Journal of Medical Genetics. Part A|March 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndromeSarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.
Pageof 2

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

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Pageof 2
You have reached the last page of results.This site can display upto 20 results.
American Journal of Human Genetics|July 8, 2017
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival FibromatosisYavuz Bayram, Janson J White, Nursel Elcioglu, et al.
American Journal of Medical Genetics. Part A|May 29, 2021
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23William Burns, Lynne M Bird, Delphine Heron, et al.
Human Genetics|September 30, 2016
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart diseaseLijiang Ma, Yavuz Bayram, Heather M McLaughlin, et al.
American Journal of Human Genetics|June 5, 2021
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of careDavid Dimmock, Sara Caylor, Bryce Waldman, et al.
JAMA Pediatrics|September 27, 2021
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial, Ian D Krantz, Livija Medne, et al.
Genome Medicine|June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMargot A Cousin, Emma L Veale, Nikita R Dsouza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalitiesElisa Cali, Mohnish Suri, Marcello Scala, et al.
Epilepsia|July 2, 2024
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variantsClaudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, et al.
Science Translational Medicine|May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon productionFrédéric Ebstein, Sébastien Küry, Victoria Most, et al.
American Journal of Medical Genetics. Part A|March 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndromeSarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.
Pageof 2