Florian Erger

Robert Koch Str. 21
Koeln, NW 50931, Germany

Last Updated: 09/26/2026

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Found 44 publications

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

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

Correction: ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.

Correction: ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.

Journal: European journal of human genetics : EJHG

Published: October 28, 2025

Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome-Associated Obstructive Hypertrophic Cardiomyopathy.

Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome-Associated Obstructive Hypertrophic Cardiomyopathy.

Journal: JACC. Case reports

Published: May 30, 2025

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.

Journal: Human molecular genetics

Published: March 18, 2025

LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort.

LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort.

Journal: Journal of medical genetics

Published: December 16, 2024

Erratum to "Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition" [Kidney International Reports Volume 9, Issue 4, April 2024, Pages 919-928].

Erratum to "Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition" [Kidney International Reports Volume 9, Issue 4, April 2024, Pages 919-928].

Journal: Kidney international reports

Published: October 21, 2024

C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female.

C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female.

Journal: Journal of inherited metabolic disease

Published: September 30, 2024

Anti-nephrin antibodies guide living donor kidney transplantation in a pediatric patient with primary focal segmental glomerular sclerosis.

Anti-nephrin antibodies guide living donor kidney transplantation in a pediatric patient with primary focal segmental glomerular sclerosis.

Journal: Kidney international

Published: August 22, 2024

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

Journal: Clinical genetics

Published: July 30, 2024

Cosmc regulates O-glycan extension in murine hepatocytes.

Cosmc regulates O-glycan extension in murine hepatocytes.

Journal: Glycobiology

Published: June 24, 2024

Challenges and Considerations in Managing Thrombotic Microangiopathy and Disseminated Intravascular Coagulation in Postpartum Hemorrhage.

Challenges and Considerations in Managing Thrombotic Microangiopathy and Disseminated Intravascular Coagulation in Postpartum Hemorrhage.

Journal: Kidney international reports

Published: May 18, 2024

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Last Updated: 09/26/2026