Nadine Bachmann

Mainz, RP, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 39 publications

PATJ deficiency leads to cystic kidney disease and related ciliopathies.

PATJ deficiency leads to cystic kidney disease and related ciliopathies.

Journal: HGG advances

Published: April 22, 2025

Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 Variants.

Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 Variants.

Journal: International journal of molecular sciences

Published: December 15, 2023

An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.

An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.

Journal: Orphanet journal of rare diseases

Published: November 07, 2022

Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects.

Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects.

Journal: International journal of molecular sciences

Published: June 30, 2022

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.

Journal: American journal of human genetics

Published: December 23, 2021

The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.

The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.

Journal: Human molecular genetics

Published: November 17, 2021

Correction to: The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.

Correction to: The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 24, 2021

The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.

The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 12, 2020

Host Genomics of the HIV-1 Reservoir Size and Its Decay Rate During Suppressive Antiretroviral Treatment.

Host Genomics of the HIV-1 Reservoir Size and Its Decay Rate During Suppressive Antiretroviral Treatment.

Journal: Journal of acquired immune deficiency syndromes (1999)

Published: November 02, 2020

Genotype-Informed Versus Empiric Management Of VirEmia (GIVE MOVE): study protocol of an open-label randomised clinical trial in children and adolescents living with HIV in Lesotho and Tanzania.

Genotype-Informed Versus Empiric Management Of VirEmia (GIVE MOVE): study protocol of an open-label randomised clinical trial in children and adolescents living with HIV in Lesotho and Tanzania.

Journal: BMC infectious diseases

Published: August 20, 2020

Method to characterize a thermal diode in saturated steam atmosphere.

Method to characterize a thermal diode in saturated steam atmosphere.

Journal: The Review of scientific instruments

Published: July 03, 2020

PEBRA trial - effect of a peer-educator coordinated preference-based ART service delivery model on viral suppression among adolescents and young adults living with HIV: protocol of a cluster-randomized clinical trial in rural Lesotho.

PEBRA trial - effect of a peer-educator coordinated preference-based ART service delivery model on viral suppression among adolescents and young adults living with HIV: protocol of a cluster-randomized clinical trial in rural Lesotho.

Journal: BMC public health

Published: March 09, 2020

Showing 1-12 of 39

Last Updated: 09/26/2026