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W Klee

Showing results (91-100 of 325) with videos related to

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Case Reports in Genetics|May 11, 2017
Pathogenic Variant in <i>ACTB</i>, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline MalformationErin Conboy, Filippo Vairo, Darrel Waggoner, et al.
Child Neurology Open|October 29, 2020
Expansion of <i>PURA</i>-Related Phenotypes and Discovery of a Novel PURA Variant: A Case ReportNicole J Boczek, Erica L Macke, Jennifer Kemppainen, et al.
BMC Bioinformatics|March 15, 2025
A clinical knowledge graph-based framework to prioritize candidate genes for facilitating diagnosis of Mendelian diseases and rare genetic conditionsRohan Gnanaolivu, Gavin Oliver, Garrett Jenkinson, et al.
Molecular Genetics & Genomic Medicine|August 29, 2023
A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case reportMatheus V M B Wilke, Lisa Schimmenti, Madeline Q R Lopour, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|August 15, 2018
Next Generation Sequencing of Sporadic Vestibular Schwannoma: Necessity of Biallelic NF2 Inactivation and Implications of Accessory Non-NF2 VariantsMatthew L Carlson, James B Smadbeck, Michael J Link, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2013
Preserving personal autonomy in a genomic testing eraNoralane M Lindor, Kiley J Johnson, Jennifer B McCormick, et al.
Clinical Chemistry|June 22, 2010
Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnosticsNicole Hoppman-Chaney, Lisa M Peterson, Eric W Klee, et al.
Molecular Genetics & Genomic Medicine|June 30, 2020
Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxiaJoel A Morales-Rosado, Erica L Macke, Margot A Cousin, et al.
Neurogastroenterology and Motility|January 22, 2019
Familial chronic megacolon presenting in childhood or adulthood: Seeking the presumed gene associationMichael Camilleri, Eric Wieben, Deborah Eckert, et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society|October 19, 2025
Novel Identification of Genetic Variants in Musculoskeletal Pathways Implicated in Familial Femoroacetabular ImpingementCody C Wyles, William H Trousdale, Christopher R Paradise, et al.
Pageof 33

Showing results (91-100 of 325) with videos related to

Sort By:
Pageof 33
Case Reports in Genetics|May 11, 2017
Pathogenic Variant in <i>ACTB</i>, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline MalformationErin Conboy, Filippo Vairo, Darrel Waggoner, et al.
Child Neurology Open|October 29, 2020
Expansion of <i>PURA</i>-Related Phenotypes and Discovery of a Novel PURA Variant: A Case ReportNicole J Boczek, Erica L Macke, Jennifer Kemppainen, et al.
BMC Bioinformatics|March 15, 2025
A clinical knowledge graph-based framework to prioritize candidate genes for facilitating diagnosis of Mendelian diseases and rare genetic conditionsRohan Gnanaolivu, Gavin Oliver, Garrett Jenkinson, et al.
Molecular Genetics & Genomic Medicine|August 29, 2023
A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case reportMatheus V M B Wilke, Lisa Schimmenti, Madeline Q R Lopour, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|August 15, 2018
Next Generation Sequencing of Sporadic Vestibular Schwannoma: Necessity of Biallelic NF2 Inactivation and Implications of Accessory Non-NF2 VariantsMatthew L Carlson, James B Smadbeck, Michael J Link, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2013
Preserving personal autonomy in a genomic testing eraNoralane M Lindor, Kiley J Johnson, Jennifer B McCormick, et al.
Clinical Chemistry|June 22, 2010
Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnosticsNicole Hoppman-Chaney, Lisa M Peterson, Eric W Klee, et al.
Molecular Genetics & Genomic Medicine|June 30, 2020
Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxiaJoel A Morales-Rosado, Erica L Macke, Margot A Cousin, et al.
Neurogastroenterology and Motility|January 22, 2019
Familial chronic megacolon presenting in childhood or adulthood: Seeking the presumed gene associationMichael Camilleri, Eric Wieben, Deborah Eckert, et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society|October 19, 2025
Novel Identification of Genetic Variants in Musculoskeletal Pathways Implicated in Familial Femoroacetabular ImpingementCody C Wyles, William H Trousdale, Christopher R Paradise, et al.
Pageof 33