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Jessica Sebastian

Showing results (11-20 of 24) with videos related to

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Cancer Journal (Sudbury, Mass.)|July 24, 2019
Adverse Events in Genetic Testing: The Fourth Case SeriesMeagan B Farmer, Danielle C Bonadies, Suzanne M Mahon, et al.
Molecular Genetics & Genomic Medicine|December 22, 2020
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotypeLinda Z Rossetti, Mir Reza Bekheirnia, Andrea M Lewis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 26, 2022
A comparative analysis of RAS variants in patients with disorders of somatic mosaicismYing-Chen Claire Hou, Michael J Evenson, Meagan M Corliss, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathiesChun-An Chen, John Lattier, Wenmiao Zhu, et al.
The Journal of Clinical Investigation|August 2, 2022
GIGYF1 disruption associates with autism and impaired IGF-1R signalingGuodong Chen, Bin Yu, Senwei Tan, et al.
Journal of Medical Genetics|December 23, 2024
<i>TFAP2E</i> is implicated in central nervous system, orofacial and maxillofacial anomaliesJeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, et al.
American Journal of Human Genetics|July 2, 2019
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe CasesYoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, et al.
American Journal of Human Genetics|December 25, 2018
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental DelayKeren Machol, Justine Rousseau, Sophie Ehresmann, et al.
American Journal of Human Genetics|April 30, 2019
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human NeuronsScott Bell, Justine Rousseau, Huashan Peng, et al.
Science Advances|October 4, 2019
Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmissionHui Guo, Ying Li, Lu Shen, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
Cancer Journal (Sudbury, Mass.)|July 24, 2019
Adverse Events in Genetic Testing: The Fourth Case SeriesMeagan B Farmer, Danielle C Bonadies, Suzanne M Mahon, et al.
Molecular Genetics & Genomic Medicine|December 22, 2020
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotypeLinda Z Rossetti, Mir Reza Bekheirnia, Andrea M Lewis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 26, 2022
A comparative analysis of RAS variants in patients with disorders of somatic mosaicismYing-Chen Claire Hou, Michael J Evenson, Meagan M Corliss, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathiesChun-An Chen, John Lattier, Wenmiao Zhu, et al.
The Journal of Clinical Investigation|August 2, 2022
GIGYF1 disruption associates with autism and impaired IGF-1R signalingGuodong Chen, Bin Yu, Senwei Tan, et al.
Journal of Medical Genetics|December 23, 2024
<i>TFAP2E</i> is implicated in central nervous system, orofacial and maxillofacial anomaliesJeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, et al.
American Journal of Human Genetics|July 2, 2019
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe CasesYoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, et al.
American Journal of Human Genetics|December 25, 2018
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental DelayKeren Machol, Justine Rousseau, Sophie Ehresmann, et al.
American Journal of Human Genetics|April 30, 2019
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human NeuronsScott Bell, Justine Rousseau, Huashan Peng, et al.
Science Advances|October 4, 2019
Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmissionHui Guo, Ying Li, Lu Shen, et al.
Pageof 3