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Yalda Jamshidi

Showing results (31-40 of 75) with videos related to

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Genes|January 21, 2023
Genetic Insights from Consanguineous Cardiomyopathy FamiliesConstance Maurer, Olga Boleti, Paria Najarzadeh Torbati, et al.
Genome Medicine|December 24, 2017
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathiesReza Maroofian, Moniek Riemersma, Lucas T Jae, et al.
Human Molecular Genetics|February 5, 2019
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24Carola Hedberg-Oldfors, Alexandra Abramsson, Daniel P S Osborn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2022
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalitiesElla F Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, et al.
Frontiers in Neuroscience|November 5, 2019
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to <i>MTMR2</i> Mutations and Implications in Membrane TraffickingHaicui Wang, Ayşe Kaçar Bayram, Rosanne Sprute, et al.
American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and DystroglycanopathyDaniel P S Osborn, Heather L Pond, Neda Mazaheri, et al.
American Journal of Human Genetics|October 5, 2019
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental DelaySangmoon Lee, Dillon Y Chen, Maha S Zaki, et al.
Nature Communications|October 23, 2019
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegiaMatias Wagner, Daniel P S Osborn, Ina Gehweiler, et al.
Brain : a Journal of Neurology|July 25, 2020
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variantsCaroline Neuray, Reza Maroofian, Marcello Scala, et al.
Neurology|July 1, 2018
Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegenerationValentina Muto, Elisabetta Flex, Zachary Kupchinsky, et al.
Pageof 8

Showing results (31-40 of 75) with videos related to

Sort By:
Pageof 8
Genes|January 21, 2023
Genetic Insights from Consanguineous Cardiomyopathy FamiliesConstance Maurer, Olga Boleti, Paria Najarzadeh Torbati, et al.
Genome Medicine|December 24, 2017
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathiesReza Maroofian, Moniek Riemersma, Lucas T Jae, et al.
Human Molecular Genetics|February 5, 2019
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24Carola Hedberg-Oldfors, Alexandra Abramsson, Daniel P S Osborn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2022
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalitiesElla F Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, et al.
Frontiers in Neuroscience|November 5, 2019
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to <i>MTMR2</i> Mutations and Implications in Membrane TraffickingHaicui Wang, Ayşe Kaçar Bayram, Rosanne Sprute, et al.
American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and DystroglycanopathyDaniel P S Osborn, Heather L Pond, Neda Mazaheri, et al.
American Journal of Human Genetics|October 5, 2019
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental DelaySangmoon Lee, Dillon Y Chen, Maha S Zaki, et al.
Nature Communications|October 23, 2019
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegiaMatias Wagner, Daniel P S Osborn, Ina Gehweiler, et al.
Brain : a Journal of Neurology|July 25, 2020
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variantsCaroline Neuray, Reza Maroofian, Marcello Scala, et al.
Neurology|July 1, 2018
Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegenerationValentina Muto, Elisabetta Flex, Zachary Kupchinsky, et al.
Pageof 8