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Nature Reviews. Nephrology|July 31, 2023
The genetics and pathogenesis of CAKUTCaroline M Kolvenbach, Shirlee Shril, Friedhelm Hildebrandt
Kidney International Reports|April 6, 2026
NPHS2 Revisited Through 208 Cases and Podocin Complex ModelingNils David Mertens, Camille Nicolas Frank, Leah Bolsius, et al.
Frontiers in Endocrinology|August 2, 2024
Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature reviewMaria Nowak-Ciołek, Michał Ciołek, Agnieszka Tomaszewska, et al.
Research Square|April 25, 2024
Recessive variants in MYO1C as a potential novel cause of proteinuric kidney diseaseIzzeldin Elmubarak, Shirlee Shril, Bshara Mansour, et al.
The Biochemical Journal|December 22, 2021
Proteomic analysis identifies ZMYM2 as endogenous binding partner of TBX18 protein in 293 and A549 cellsTimo H-W Lüdtke, Marc-Jens Kleppa, Reginaldo Rivera-Reyes, et al.
The Journal of Clinical Endocrinology and Metabolism|February 9, 2022
A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive MannerReema Habiby, Daniel G Bichet, Marie-Francoise Arthus, et al.
Pediatric Nephrology (Berlin, Germany)|June 21, 2024
Recessive variants in MYO1C as a potential novel cause of proteinuric kidney diseaseIzzeldin Elmubarak, Shirlee Shril, Bshara Mansour, et al.
Acta Paediatrica (Oslo, Norway : 1992)|February 27, 2023
Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of lifeSamar Atef Elshafey, Mohamed Alaa Eldin Hassan Thabet, Reham Abdel Haleem Abo Elwafa, et al.
Molecular Syndromology|September 8, 2017
Whole-Exome Sequencing Reveals Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case ReportAmelie T van der Ven, Shirlee Shril, Hadas Ityel, et al.
American Journal of Medical Genetics. Part A|September 4, 2024
Genetic Contributions to Lower Urinary Tract DysfunctionLilian R Hiltebeitel, Steve Seltzsam, Chunyan Wang, et al.
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