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Jennifer Friedman

Showing results (71-80 of 90) with videos related to

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Brain : a Journal of Neurology|December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcificationsAshish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, et al.
Brain Communications|November 6, 2024
Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutationsSara Nagy, Alistair T Pagnamenta, Elisa Cali, et al.
Plos One|May 22, 2015
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF RegistryLouis Viollet, Gustavo Glusman, Kelley J Murphy, et al.
Human Genetics|May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyIlaria Parenti, Daphné Lehalle, Caroline Nava, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2022
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsKerith-Rae Dias, Colleen M Carlston, Laura E R Blok, et al.
Journal of Medical Genetics|March 2, 2022
Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndromeMarco Angelozzi, Anirudha Karvande, Arnaud N Molin, et al.
Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.
American Journal of Human Genetics|June 3, 2017
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin DysfunctionMichele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, et al.
Science Translational Medicine|April 26, 2019
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretationMichelle M Clark, Amber Hildreth, Sergey Batalov, et al.
Annals of Neurology|April 17, 2026
Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical ProfilesJana Domínguez-Carral, Ana María Domínguez Cobo, Sol Balsells, et al.
Pageof 9

Showing results (71-80 of 90) with videos related to

Sort By:
Pageof 9
Brain : a Journal of Neurology|December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcificationsAshish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, et al.
Brain Communications|November 6, 2024
Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutationsSara Nagy, Alistair T Pagnamenta, Elisa Cali, et al.
Plos One|May 22, 2015
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF RegistryLouis Viollet, Gustavo Glusman, Kelley J Murphy, et al.
Human Genetics|May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyIlaria Parenti, Daphné Lehalle, Caroline Nava, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2022
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsKerith-Rae Dias, Colleen M Carlston, Laura E R Blok, et al.
Journal of Medical Genetics|March 2, 2022
Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndromeMarco Angelozzi, Anirudha Karvande, Arnaud N Molin, et al.
Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.
American Journal of Human Genetics|June 3, 2017
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin DysfunctionMichele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, et al.
Science Translational Medicine|April 26, 2019
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretationMichelle M Clark, Amber Hildreth, Sergey Batalov, et al.
Annals of Neurology|April 17, 2026
Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical ProfilesJana Domínguez-Carral, Ana María Domínguez Cobo, Sol Balsells, et al.
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