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Journal of the American Society of Nephrology : JASN
|
January 19, 2019
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients
Nina Mann, Daniela A Braun, Kassaundra Amann, et al.
Journal of the American Society of Nephrology : JASN
|
February 17, 2021
Mutations in <i>PRDM15</i> Are a Novel Cause of Galloway-Mowat Syndrome
Nina Mann, Slim Mzoughi, Ronen Schneider, et al.
Kidney International
|
September 13, 2017
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
Ankana Daga, Amar J Majmundar, Daniela A Braun, et al.
American Journal of Medical Genetics. Part A
|
May 23, 2024
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023)
Angela E Lin, Eleanor R Scimone, Robyn P Thom, et al.
The Journal of Clinical Investigation
|
September 5, 2018
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
Daniela A Braun, Svjetlana Lovric, David Schapiro, et al.
The Journal of Clinical Investigation
|
February 7, 2017
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Svjetlana Lovric, Sara Goncalves, Heon Yung Gee, et al.
Clinical Journal of the American Society of Nephrology : CJASN
|
November 12, 2017
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
Jillian K Warejko, Weizhen Tan, Ankana Daga, et al.
Nature Communications
|
May 19, 2018
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
Shazia Ashraf, Hiroki Kudo, Jia Rao, et al.
Journal of the American Society of Nephrology : JASN
|
August 26, 2018
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract
Amelie T van der Ven, Dervla M Connaughton, Hadas Ityel, et al.
Nature Genetics
|
August 15, 2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Daniela A Braun, Jia Rao, Geraldine Mollet, et al.
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Showing results (21-30 of 30) with videos related to
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This site can display upto 30 results.
Journal of the American Society of Nephrology : JASN
|
January 19, 2019
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients
Nina Mann, Daniela A Braun, Kassaundra Amann, et al.
Journal of the American Society of Nephrology : JASN
|
February 17, 2021
Mutations in <i>PRDM15</i> Are a Novel Cause of Galloway-Mowat Syndrome
Nina Mann, Slim Mzoughi, Ronen Schneider, et al.
Kidney International
|
September 13, 2017
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
Ankana Daga, Amar J Majmundar, Daniela A Braun, et al.
American Journal of Medical Genetics. Part A
|
May 23, 2024
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023)
Angela E Lin, Eleanor R Scimone, Robyn P Thom, et al.
The Journal of Clinical Investigation
|
September 5, 2018
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
Daniela A Braun, Svjetlana Lovric, David Schapiro, et al.
The Journal of Clinical Investigation
|
February 7, 2017
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Svjetlana Lovric, Sara Goncalves, Heon Yung Gee, et al.
Clinical Journal of the American Society of Nephrology : CJASN
|
November 12, 2017
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
Jillian K Warejko, Weizhen Tan, Ankana Daga, et al.
Nature Communications
|
May 19, 2018
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
Shazia Ashraf, Hiroki Kudo, Jia Rao, et al.
Journal of the American Society of Nephrology : JASN
|
August 26, 2018
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract
Amelie T van der Ven, Dervla M Connaughton, Hadas Ityel, et al.
Nature Genetics
|
August 15, 2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Daniela A Braun, Jia Rao, Geraldine Mollet, et al.
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