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Zornitza Stark

Showing results (181-190 of 240) with videos related to

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Human Mutation|June 1, 2018
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryRaman Kumar, Alison Gardner, Claire C Homan, et al.
Medrxiv : the Preprint Server for Health Sciences|October 17, 2024
Biallelic variants in <i>MRPL49</i> cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyHuw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
Epigenomics|May 30, 2023
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variantsNiels Vos, Jack Reilly, Mariet W Elting, et al.
Epilepsia|January 21, 2021
The severe epilepsy syndromes of infancy: A population-based studyKatherine B Howell, Jeremy L Freeman, Mark T Mackay, et al.
Nature Medicine|October 9, 2025
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening studySebastian Lunke, Lilian Downie, Jade Caruana, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendationsEric Lee, Trang Le, Ying Zhu, et al.
American Journal of Human Genetics|May 20, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Variants in <i>BSN</i>, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.
Pageof 24

Showing results (181-190 of 240) with videos related to

Sort By:
Pageof 24
Human Mutation|June 1, 2018
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryRaman Kumar, Alison Gardner, Claire C Homan, et al.
Medrxiv : the Preprint Server for Health Sciences|October 17, 2024
Biallelic variants in <i>MRPL49</i> cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyHuw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
Epigenomics|May 30, 2023
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variantsNiels Vos, Jack Reilly, Mariet W Elting, et al.
Epilepsia|January 21, 2021
The severe epilepsy syndromes of infancy: A population-based studyKatherine B Howell, Jeremy L Freeman, Mark T Mackay, et al.
Nature Medicine|October 9, 2025
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening studySebastian Lunke, Lilian Downie, Jade Caruana, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendationsEric Lee, Trang Le, Ying Zhu, et al.
American Journal of Human Genetics|May 20, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Variants in <i>BSN</i>, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.
Pageof 24