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B Beck

Showing results (691-700 of 719) with videos related to

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Science Advances|February 1, 2021
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variationDavid B Beck, Mohammed A Basar, Anthony J Asmar, et al.
The Journal of Clinical Investigation|July 23, 2013
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signalingHeon Yung Gee, Pawaree Saisawat, Shazia Ashraf, et al.
Kidney International|May 3, 2021
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variantsKathrin Burgmaier, Leonie Brinker, Florian Erger, et al.
American Journal of Human Genetics|January 14, 2020
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 DeficiencyDavid B Beck, Ana Petracovici, Chongsheng He, et al.
Kidney International|June 1, 2022
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseasesFlorian J Wopperer, Karl X Knaup, Kira J Stanzick, et al.
The New England Journal of Medicine|April 28, 2016
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 MutationsKamel Laghmani, Bodo B Beck, Sung-Sen Yang, et al.
American Journal of Human Genetics|July 7, 2018
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational FunctionZhiwen Xu, Wing-Sze Lo, David B Beck, et al.
Blood|April 21, 2023
Spectrum of clonal hematopoiesis in VEXAS syndromeFernanda Gutierrez-Rodrigues, Yael Kusne, Jenna Fernandez, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|March 29, 2021
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXASMarcela A Ferrada, Keith A Sikora, Yiming Luo, et al.
Nature Communications|November 27, 2025
Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatmentFlorian Buerger, Daanya Salmanullah, Lorrin Liang, et al.
Pageof 72

Showing results (691-700 of 719) with videos related to

Sort By:
Pageof 72
Science Advances|February 1, 2021
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variationDavid B Beck, Mohammed A Basar, Anthony J Asmar, et al.
The Journal of Clinical Investigation|July 23, 2013
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signalingHeon Yung Gee, Pawaree Saisawat, Shazia Ashraf, et al.
Kidney International|May 3, 2021
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variantsKathrin Burgmaier, Leonie Brinker, Florian Erger, et al.
American Journal of Human Genetics|January 14, 2020
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 DeficiencyDavid B Beck, Ana Petracovici, Chongsheng He, et al.
Kidney International|June 1, 2022
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseasesFlorian J Wopperer, Karl X Knaup, Kira J Stanzick, et al.
The New England Journal of Medicine|April 28, 2016
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 MutationsKamel Laghmani, Bodo B Beck, Sung-Sen Yang, et al.
American Journal of Human Genetics|July 7, 2018
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational FunctionZhiwen Xu, Wing-Sze Lo, David B Beck, et al.
Blood|April 21, 2023
Spectrum of clonal hematopoiesis in VEXAS syndromeFernanda Gutierrez-Rodrigues, Yael Kusne, Jenna Fernandez, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|March 29, 2021
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXASMarcela A Ferrada, Keith A Sikora, Yiming Luo, et al.
Nature Communications|November 27, 2025
Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatmentFlorian Buerger, Daanya Salmanullah, Lorrin Liang, et al.
Pageof 72