Bodo B. Beck

Robert Koch Str. 21
Koeln, NW 50931, Germany

Last Updated: 09/26/2026

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Found 117 publications

Biallelic pathogenic variants in EXOSC3 mediate renal thrombotic microangiopathy of the kidney.

Biallelic pathogenic variants in EXOSC3 mediate renal thrombotic microangiopathy of the kidney.

Journal: Kidney international

Published: February 10, 2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal: Journal of medical genetics

Published: December 26, 2025

Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review.

Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review.

Journal: Molecular and cellular pediatrics

Published: December 16, 2025

Primary hyperoxaluria type 1-current practice in the siRNA era: an ERA Genes & Kidney Working Group survey.

Primary hyperoxaluria type 1-current practice in the siRNA era: an ERA Genes & Kidney Working Group survey.

Journal: Clinical kidney journal

Published: December 05, 2025

Hereditary kidney tumor syndromes: structured evaluation of a questionnaire-based approach.

Hereditary kidney tumor syndromes: structured evaluation of a questionnaire-based approach.

Journal: Clinical kidney journal

Published: December 02, 2025

New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.

New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.

Journal: Journal of internal medicine

Published: November 21, 2025

Targeted VNTR long read sequencing resolves a diagnostic bottleneck in ADTKD and detects de novo ADTKD-MUC1.

Targeted VNTR long read sequencing resolves a diagnostic bottleneck in ADTKD and detects de novo ADTKD-MUC1.

Journal: Kidney international

Published: November 03, 2025

Cinacalcet therapy in symptomatic 11-year-old girl with familial hypocalciuric hypercalcemia type 3.

Cinacalcet therapy in symptomatic 11-year-old girl with familial hypocalciuric hypercalcemia type 3.

Journal: Pediatric nephrology (Berlin, Germany)

Published: October 10, 2025

Intermittent dark urine in a school-aged boy: a case of alkaptonuria.

Intermittent dark urine in a school-aged boy: a case of alkaptonuria.

Journal: Kidney international

Published: June 30, 2025

Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives.

Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives.

Journal: Kidney international reports

Published: February 03, 2025

Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene.

Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene.

Journal: HGG advances

Published: January 24, 2025

Genetics in nephrology - any news?

Genetics in nephrology - any news?

Journal: Deutsche medizinische Wochenschrift (1946)

Published: October 22, 2024

Showing 1-12 of 117

Last Updated: 09/26/2026