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Genes & Diseases
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June 13, 2024
Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding <i>NPHP1</i> deletions
Konstantin Deutsch, Verena Klämbt, Thomas M Kitzler, et al.
Human Genetics
|
June 1, 2015
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
Daw-Yang Hwang, Stefan Kohl, Xueping Fan, et al.
Journal of Inherited Metabolic Disease
|
June 10, 2019
Management of bone disease in cystinosis: Statement from an international conference
Katharina Hohenfellner, Frank Rauch, Gema Ariceta, et al.
Human Genetics
|
May 22, 2025
Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome
Neveen A Soliman, Mohamed A Elmonem, Ahmed F El-Sayed, et al.
The Journal of Clinical Investigation
|
July 23, 2013
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
Heon Yung Gee, Pawaree Saisawat, Shazia Ashraf, et al.
American Journal of Human Genetics
|
November 24, 2020
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation
Ronen Schneider, Konstantin Deutsch, Gregory J Hoeprich, et al.
Nature Communications
|
October 22, 2015
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization
Albane A Bizet, Anita Becker-Heck, Rebecca Ryan, et al.
Nature Reviews. Nephrology
|
June 15, 2026
Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis
Katharina Hohenfellner, Elke Wühl, Dieter Haffner, et al.
European Urology Open Science
|
October 3, 2022
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract
Chen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, et al.
Pediatric Nephrology (Berlin, Germany)
|
January 23, 2026
Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndrome
Bshara Mansour, Katharina Lemberg, Ronen Schneider, et al.
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of 8
Search research articles
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Showing results (51-60 of 79) with videos related to
Sort By:
Page
of 8
Genes & Diseases
|
June 13, 2024
Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding <i>NPHP1</i> deletions
Konstantin Deutsch, Verena Klämbt, Thomas M Kitzler, et al.
Human Genetics
|
June 1, 2015
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
Daw-Yang Hwang, Stefan Kohl, Xueping Fan, et al.
Journal of Inherited Metabolic Disease
|
June 10, 2019
Management of bone disease in cystinosis: Statement from an international conference
Katharina Hohenfellner, Frank Rauch, Gema Ariceta, et al.
Human Genetics
|
May 22, 2025
Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome
Neveen A Soliman, Mohamed A Elmonem, Ahmed F El-Sayed, et al.
The Journal of Clinical Investigation
|
July 23, 2013
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
Heon Yung Gee, Pawaree Saisawat, Shazia Ashraf, et al.
American Journal of Human Genetics
|
November 24, 2020
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation
Ronen Schneider, Konstantin Deutsch, Gregory J Hoeprich, et al.
Nature Communications
|
October 22, 2015
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization
Albane A Bizet, Anita Becker-Heck, Rebecca Ryan, et al.
Nature Reviews. Nephrology
|
June 15, 2026
Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis
Katharina Hohenfellner, Elke Wühl, Dieter Haffner, et al.
European Urology Open Science
|
October 3, 2022
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract
Chen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, et al.
Pediatric Nephrology (Berlin, Germany)
|
January 23, 2026
Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndrome
Bshara Mansour, Katharina Lemberg, Ronen Schneider, et al.
Page
of 8