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Journal of the American Society of Nephrology : JASN
|
July 1, 2018
<i>GAPVD1</i> and <i>ANKFY1</i> Mutations Implicate RAB5 Regulation in Nephrotic Syndrome
Tobias Hermle, Ronen Schneider, David Schapiro, et al.
Nature Communications
|
September 27, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Arthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Biorxiv : the Preprint Server for Biology
|
April 22, 2024
The landscape of regional missense mutational intolerance quantified from 125,748 exomes
Katherine R Chao, Lily Wang, Ruchit Panchal, 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 cases
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Nature Medicine
|
January 23, 2021
Author Correction: The effect of LRRK2 loss-of-function variants in humans
Nicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
HGG Advances
|
April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
JACC. Cardiovascular Interventions
|
February 25, 2022
Management and Outcome of Failed Percutaneous Edge-to-Edge Mitral Valve Plasty: Insight From an International Registry
Antonio Mangieri, Francesco Melillo, Claudio Montalto, et al.
Nature Medicine
|
May 29, 2020
The effect of LRRK2 loss-of-function variants in humans
Nicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society
|
July 18, 2022
Clinical and echocardiographic risk factors for device-related thrombus after left atrial appendage closure: an analysis from the multicenter EUROC-DRT registry
Vivian Vij, Kerstin Piayda, Dominik Nelles, et al.
Echocardiography (Mount Kisco, N.Y.)
|
July 23, 2024
Impact of gender in patients with device-related thrombosis after left atrial appendage closure - A sub-analysis from the multicenter EUROC-DRT-registry
Jacqueline Saw, Vivian Vij, Roberto Galea, et al.
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Search research articles
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Showing results (151-160 of 171) with videos related to
Sort By:
Page
of 18
Journal of the American Society of Nephrology : JASN
|
July 1, 2018
<i>GAPVD1</i> and <i>ANKFY1</i> Mutations Implicate RAB5 Regulation in Nephrotic Syndrome
Tobias Hermle, Ronen Schneider, David Schapiro, et al.
Nature Communications
|
September 27, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Arthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Biorxiv : the Preprint Server for Biology
|
April 22, 2024
The landscape of regional missense mutational intolerance quantified from 125,748 exomes
Katherine R Chao, Lily Wang, Ruchit Panchal, 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 cases
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Nature Medicine
|
January 23, 2021
Author Correction: The effect of LRRK2 loss-of-function variants in humans
Nicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
HGG Advances
|
April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
JACC. Cardiovascular Interventions
|
February 25, 2022
Management and Outcome of Failed Percutaneous Edge-to-Edge Mitral Valve Plasty: Insight From an International Registry
Antonio Mangieri, Francesco Melillo, Claudio Montalto, et al.
Nature Medicine
|
May 29, 2020
The effect of LRRK2 loss-of-function variants in humans
Nicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society
|
July 18, 2022
Clinical and echocardiographic risk factors for device-related thrombus after left atrial appendage closure: an analysis from the multicenter EUROC-DRT registry
Vivian Vij, Kerstin Piayda, Dominik Nelles, et al.
Echocardiography (Mount Kisco, N.Y.)
|
July 23, 2024
Impact of gender in patients with device-related thrombosis after left atrial appendage closure - A sub-analysis from the multicenter EUROC-DRT-registry
Jacqueline Saw, Vivian Vij, Roberto Galea, et al.
Page
of 18