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Neveen A Soliman

Showing results (51-60 of 79) with videos related to

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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> deletionsKonstantin 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 tractDaw-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 conferenceKatharina 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 syndromeNeveen 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 signalingHeon Yung Gee, Pawaree Saisawat, Shazia Ashraf, et al.
American Journal of Human Genetics|November 24, 2020
DAAM2 Variants Cause Nephrotic Syndrome via Actin DysregulationRonen 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 stabilizationAlbane 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 cystinosisKatharina 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 TractChen-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 syndromeBshara Mansour, Katharina Lemberg, Ronen Schneider, et al.
Pageof 8

Showing results (51-60 of 79) with videos related to

Sort By:
Pageof 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> deletionsKonstantin 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 tractDaw-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 conferenceKatharina 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 syndromeNeveen 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 signalingHeon Yung Gee, Pawaree Saisawat, Shazia Ashraf, et al.
American Journal of Human Genetics|November 24, 2020
DAAM2 Variants Cause Nephrotic Syndrome via Actin DysregulationRonen 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 stabilizationAlbane 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 cystinosisKatharina 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 TractChen-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 syndromeBshara Mansour, Katharina Lemberg, Ronen Schneider, et al.
Pageof 8