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European Journal of Human Genetics : EJHG|March 19, 2026
Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous resultsKorbinian M Riedhammer, Patrick Richthammer, Dominik S Westphal, et al.
European Journal of Human Genetics : EJHG|March 16, 2023
Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experienceKorbinian M Riedhammer, Jasmina Ćomić, Velibor Tasic, et al.
Kidney International Reports|July 18, 2025
Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic DataMatthias Christoph Braunisch, Clara M Großewinkelmann, Martin Menke, et al.
Clinical Genetics|January 12, 2024
Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?Korbinian M Riedhammer, Hannes Simmendinger, Velibor Tasic, et al.
Frontiers in Pediatrics|October 17, 2022
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome casesMaryam Najafi, Korbinian M Riedhammer, Aboulfazl Rad, et al.
Frontiers in Medicine|September 19, 2022
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experienceJasmina Ćomić, Korbinian M Riedhammer, Roman Günthner, et al.
Frontiers in Medicine|November 7, 2022
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by ageRoman Günthner, Lea Knipping, Stefanie Jeruschke, et al.
Kidney International Reports|April 14, 2025
Trio Exome Sequencing in VACTERL AssociationJasmina Ćomić, Erik Tilch, Korbinian M Riedhammer, et al.
Kidney International Reports|June 9, 2025
<i>COL4A5</i>-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome PhenotypeBastian M Krüger, Annika Jens, Anna Neuhaus, et al.
Medrxiv : the Preprint Server for Health Sciences|March 30, 2023
Implication of <i>FOXD2</i> dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, et al.
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