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Showing results (121-130 of 173) with videos related to

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Plos Genetics|July 26, 2017
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentiallyXi Luo, Jill A Rosenfeld, Shinya Yamamoto, et al.
Nature Genetics|March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisDeborah Krakow, Stephen P Robertson, Lily M King, et al.
Human Mutation|January 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiencyYoel Gofin, Tianyun Wang, Madelyn A Gillentine, et al.
Pediatric Neurology|August 13, 2021
Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental SyndromesOlivia J Veatch, Beth A Malow, Hye-Seung Lee, et al.
Nature Communications|May 17, 2020
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activityLaure Asselin, José Rivera Alvarez, Solveig Heide, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsBo Yuan, Lei Wang, Pengfei Liu, et al.
American Journal of Human Genetics|April 9, 2024
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencingShenglan Li, Sen Zhao, Jefferson C Sinson, et al.
American Journal of Human Genetics|November 27, 2010
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problemsMelissa B Ramocki, Magdalena Bartnik, Przemyslaw Szafranski, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial DysfunctionNadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, et al.
American Journal of Medical Genetics. Part A|September 26, 2017
A randomized controlled trial of levodopa in patients with Angelman syndromeWen-Hann Tan, Lynne M Bird, Anjali Sadhwani, et al.
Pageof 18

Showing results (121-130 of 173) with videos related to

Sort By:
Pageof 18
Plos Genetics|July 26, 2017
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentiallyXi Luo, Jill A Rosenfeld, Shinya Yamamoto, et al.
Nature Genetics|March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisDeborah Krakow, Stephen P Robertson, Lily M King, et al.
Human Mutation|January 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiencyYoel Gofin, Tianyun Wang, Madelyn A Gillentine, et al.
Pediatric Neurology|August 13, 2021
Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental SyndromesOlivia J Veatch, Beth A Malow, Hye-Seung Lee, et al.
Nature Communications|May 17, 2020
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activityLaure Asselin, José Rivera Alvarez, Solveig Heide, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsBo Yuan, Lei Wang, Pengfei Liu, et al.
American Journal of Human Genetics|April 9, 2024
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencingShenglan Li, Sen Zhao, Jefferson C Sinson, et al.
American Journal of Human Genetics|November 27, 2010
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problemsMelissa B Ramocki, Magdalena Bartnik, Przemyslaw Szafranski, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial DysfunctionNadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, et al.
American Journal of Medical Genetics. Part A|September 26, 2017
A randomized controlled trial of levodopa in patients with Angelman syndromeWen-Hann Tan, Lynne M Bird, Anjali Sadhwani, et al.
Pageof 18