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Seth L Alper

Showing results (231-240 of 258) with videos related to

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Nature Communications|January 9, 2020
Modulation of brain cation-Cl<sup>-</sup> cotransport via the SPAK kinase inhibitor ZT-1aJinwei Zhang, Mohammad Iqbal H Bhuiyan, Ting Zhang, et al.
Kidney International|January 22, 2020
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosisTilman Jobst-Schwan, Verena Klämbt, Maureen Tarsio, et al.
Nature Genetics|April 2, 2003
Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiencyBarry H Paw, Alan J Davidson, Yi Zhou, et al.
Trends in Molecular Medicine|October 6, 2023
Human genetics and molecular genomics of Chiari malformation type 1Kedous Y Mekbib, William Muñoz, Garrett Allington, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 26, 2022
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasisAmar J Majmundar, Eugen Widmeier, John F Heneghan, et al.
Journal of the American Society of Nephrology : JASN|July 4, 2018
Noninvasive Immunohistochemical Diagnosis and Novel <i>MUC1</i> Mutations Causing Autosomal Dominant Tubulointerstitial Kidney DiseaseMartina Živná, Kendrah Kidd, Anna Přistoupilová, et al.
Medrxiv : the Preprint Server for Health Sciences|March 30, 2023
A novel <i>SMARCC1</i> -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalusAmrita K Singh, Stephen Viviano, Garrett Allington, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 25, 2024
Genetic risk factors for Mesoamerican nephropathyDavid J Friedman, Dominick A Leone, Juan José Amador, et al.
Brain : a Journal of Neurology|December 21, 2023
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalusAmrita K Singh, Garrett Allington, Stephen Viviano, et al.
Brain : a Journal of Neurology|June 4, 2024
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalusPhan Q Duy, Bettina Jux, Shujuan Zhao, et al.
Pageof 26

Showing results (231-240 of 258) with videos related to

Sort By:
Pageof 26
Nature Communications|January 9, 2020
Modulation of brain cation-Cl<sup>-</sup> cotransport via the SPAK kinase inhibitor ZT-1aJinwei Zhang, Mohammad Iqbal H Bhuiyan, Ting Zhang, et al.
Kidney International|January 22, 2020
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosisTilman Jobst-Schwan, Verena Klämbt, Maureen Tarsio, et al.
Nature Genetics|April 2, 2003
Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiencyBarry H Paw, Alan J Davidson, Yi Zhou, et al.
Trends in Molecular Medicine|October 6, 2023
Human genetics and molecular genomics of Chiari malformation type 1Kedous Y Mekbib, William Muñoz, Garrett Allington, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 26, 2022
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasisAmar J Majmundar, Eugen Widmeier, John F Heneghan, et al.
Journal of the American Society of Nephrology : JASN|July 4, 2018
Noninvasive Immunohistochemical Diagnosis and Novel <i>MUC1</i> Mutations Causing Autosomal Dominant Tubulointerstitial Kidney DiseaseMartina Živná, Kendrah Kidd, Anna Přistoupilová, et al.
Medrxiv : the Preprint Server for Health Sciences|March 30, 2023
A novel <i>SMARCC1</i> -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalusAmrita K Singh, Stephen Viviano, Garrett Allington, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 25, 2024
Genetic risk factors for Mesoamerican nephropathyDavid J Friedman, Dominick A Leone, Juan José Amador, et al.
Brain : a Journal of Neurology|December 21, 2023
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalusAmrita K Singh, Garrett Allington, Stephen Viviano, et al.
Brain : a Journal of Neurology|June 4, 2024
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalusPhan Q Duy, Bettina Jux, Shujuan Zhao, et al.
Pageof 26