Martina Marangoni

Brussels, BRU, Belgium

Last Updated: 09/26/2026

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Found 18 publications

A Partial UMOD Deletion Results in Altered Uromodulin Synthesis and Autosomal-Dominant Tubulointerstitial Kidney Disease-Uromodulin.

A Partial UMOD Deletion Results in Altered Uromodulin Synthesis and Autosomal-Dominant Tubulointerstitial Kidney Disease-Uromodulin.

Journal: Kidney medicine

Published: March 09, 2026

Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders.

Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders.

Journal: European journal of medical genetics

Published: February 06, 2025

Sedative protocols for the restraint of coatis (Nasua nasua) for management and monitoring.

Sedative protocols for the restraint of coatis (Nasua nasua) for management and monitoring.

Journal: Brazilian journal of biology = Revista brasleira de biologia

Published: August 06, 2024

Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report.

Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report.

Journal: Clinical case reports

Published: February 17, 2024

Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses: A prospective cohort study.

Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses: A prospective cohort study.

Journal: Journal of the American Academy of Dermatology

Published: October 30, 2022

Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.

Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.

Journal: Clinical genetics

Published: October 06, 2022

Salt-losing tubulopathy worsening the prognosis of renal sarcoidosis.

Salt-losing tubulopathy worsening the prognosis of renal sarcoidosis.

Journal: Journal of nephrology

Published: August 02, 2022

Co-Occurrence of Hypohidrotic Ectodermal Dysplasia and Food Protein-Induced Enterocolitis Syndrome: A Report of a New Ectodysplasin A Variant.

Co-Occurrence of Hypohidrotic Ectodermal Dysplasia and Food Protein-Induced Enterocolitis Syndrome: A Report of a New Ectodysplasin A Variant.

Journal: Skin appendage disorders

Published: April 01, 2022

Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.

Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.

Journal: Pediatric dermatology

Published: October 31, 2021

Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature Review.

Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature Review.

Journal: Frontiers in medicine

Published: October 14, 2021

Spontaneous resolution of nonimmune hydrops fetalis in a fetus with TP63 gene mutation and LZTR1 gene variants.

Spontaneous resolution of nonimmune hydrops fetalis in a fetus with TP63 gene mutation and LZTR1 gene variants.

Journal: Clinical case reports

Published: April 14, 2021

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

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

Published: April 08, 2021

Showing 1-12 of 18

Last Updated: 09/26/2026