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Showing results (361-370 of 406) with videos related to

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Orphanet Journal of Rare Diseases|January 30, 2022
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathyManisha Korb, Allison Peck, Lindsay N Alfano, et al.
Clinical Genetics|May 17, 2023
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysisSeth I Berger, Georgia Pitsava, Andrea J Cohen, et al.
Nature Communications|March 30, 2024
Secondary bone marrow graft loss after third-party virus-specific T cell infusion: Case report of a rare complicationMichael D Keller, Stefan A Schattgen, Shanmuganathan Chandrakasan, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Long-read sequencing resolves the clinically relevant <i>CYP21A2</i> locus, supporting a new clinical test for Congenital Adrenal HyperplasiaJean Monlong, Xiao Chen, Hayk Barseghyan, et al.
BMC Cardiovascular Disorders|April 17, 2026
Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencingMichael Arad, Andrea Virginia Ferreira Chaves, Murillo Antunes, et al.
Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
Clinical Neurology and Neurosurgery|June 24, 2022
Risk factors for delirium in elderly patients after lumbar spinal fusionColin Gold, Emanuel Ray, David Christianson, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Pathogenic variants in <i>TMEM184B</i> cause a neurodevelopmental syndrome via alteration of metabolic signalingKimberly A Chapman, Farid Ullah, Zachary A Yahiku, et al.
Journal of Inherited Metabolic Disease|February 9, 2010
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatasePaul Harmatz, Zi-Fan Yu, Roberto Giugliani, et al.
Nature Communications|December 4, 2023
Author Correction: Immediate neural impact and incomplete compensation after semantic hub disconnectionZsuzsanna Kocsis, Rick L Jenison, Peter N Taylor, et al.
Pageof 41

Showing results (361-370 of 406) with videos related to

Sort By:
Pageof 41
Orphanet Journal of Rare Diseases|January 30, 2022
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathyManisha Korb, Allison Peck, Lindsay N Alfano, et al.
Clinical Genetics|May 17, 2023
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysisSeth I Berger, Georgia Pitsava, Andrea J Cohen, et al.
Nature Communications|March 30, 2024
Secondary bone marrow graft loss after third-party virus-specific T cell infusion: Case report of a rare complicationMichael D Keller, Stefan A Schattgen, Shanmuganathan Chandrakasan, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Long-read sequencing resolves the clinically relevant <i>CYP21A2</i> locus, supporting a new clinical test for Congenital Adrenal HyperplasiaJean Monlong, Xiao Chen, Hayk Barseghyan, et al.
BMC Cardiovascular Disorders|April 17, 2026
Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencingMichael Arad, Andrea Virginia Ferreira Chaves, Murillo Antunes, et al.
Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
Clinical Neurology and Neurosurgery|June 24, 2022
Risk factors for delirium in elderly patients after lumbar spinal fusionColin Gold, Emanuel Ray, David Christianson, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Pathogenic variants in <i>TMEM184B</i> cause a neurodevelopmental syndrome via alteration of metabolic signalingKimberly A Chapman, Farid Ullah, Zachary A Yahiku, et al.
Journal of Inherited Metabolic Disease|February 9, 2010
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatasePaul Harmatz, Zi-Fan Yu, Roberto Giugliani, et al.
Nature Communications|December 4, 2023
Author Correction: Immediate neural impact and incomplete compensation after semantic hub disconnectionZsuzsanna Kocsis, Rick L Jenison, Peter N Taylor, et al.
Pageof 41