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Seth L Alper

Showing results (221-230 of 258) with videos related to

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Physiological Genomics|June 11, 2009
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing lossPu Dai, Andrew K Stewart, Fouad Chebib, et al.
Scientific Reports|October 27, 2016
Functional kinomics establishes a critical node of volume-sensitive cation-Cl<sup>-</sup> cotransporter regulation in the mammalian brainJinwei Zhang, Geng Gao, Gulnaz Begum, et al.
Nature Medicine|July 11, 2017
Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalusJason K Karimy, Jinwei Zhang, David B Kurland, et al.
American Journal of Physiology. Cell Physiology|August 19, 2011
Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65SAndrew K Stewart, Boris E Shmukler, David H Vandorpe, et al.
Brain : a Journal of Neurology|December 16, 2024
De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegalyGarrett Allington, Neel H Mehta, Evan Dennis, et al.
American Journal of Nephrology|June 7, 2021
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 MutationsPetr Vylet'al, Kendrah Kidd, Hannah C Ainsworth, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 25, 2017
A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathyKarl L Skorecki, Jessica H Lee, Carl D Langefeld, et al.
Blood|March 13, 2013
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1Immacolata Andolfo, Seth L Alper, Lucia De Franceschi, et al.
Human Mutation|February 11, 2009
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?Byung Yoon Choi, Andrew K Stewart, Anne C Madeo, et al.
Acta Neuropathologica Communications|April 24, 2025
Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagyVeronica Riccardi, Carlo Fiore Viscomi, Marco Sandri, et al.
Pageof 26

Showing results (221-230 of 258) with videos related to

Sort By:
Pageof 26
Physiological Genomics|June 11, 2009
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing lossPu Dai, Andrew K Stewart, Fouad Chebib, et al.
Scientific Reports|October 27, 2016
Functional kinomics establishes a critical node of volume-sensitive cation-Cl<sup>-</sup> cotransporter regulation in the mammalian brainJinwei Zhang, Geng Gao, Gulnaz Begum, et al.
Nature Medicine|July 11, 2017
Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalusJason K Karimy, Jinwei Zhang, David B Kurland, et al.
American Journal of Physiology. Cell Physiology|August 19, 2011
Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65SAndrew K Stewart, Boris E Shmukler, David H Vandorpe, et al.
Brain : a Journal of Neurology|December 16, 2024
De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegalyGarrett Allington, Neel H Mehta, Evan Dennis, et al.
American Journal of Nephrology|June 7, 2021
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 MutationsPetr Vylet'al, Kendrah Kidd, Hannah C Ainsworth, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 25, 2017
A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathyKarl L Skorecki, Jessica H Lee, Carl D Langefeld, et al.
Blood|March 13, 2013
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1Immacolata Andolfo, Seth L Alper, Lucia De Franceschi, et al.
Human Mutation|February 11, 2009
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?Byung Yoon Choi, Andrew K Stewart, Anne C Madeo, et al.
Acta Neuropathologica Communications|April 24, 2025
Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagyVeronica Riccardi, Carlo Fiore Viscomi, Marco Sandri, et al.
Pageof 26