Marrit M. Hitzert

Groningen, GR, Netherlands

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 20 publications

Evaluation of the Diagnostic Yield of Exome-Based Panels for Congenital Heart Defects in Different Clinical Settings.

Evaluation of the Diagnostic Yield of Exome-Based Panels for Congenital Heart Defects in Different Clinical Settings.

Journal: Circulation. Genomic and precision medicine

Published: July 01, 2026

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Journal: European journal of human genetics : EJHG

Published: April 02, 2025

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.

Journal: American journal of medical genetics. Part A

Published: April 04, 2023

The role of TBX18 in congenital heart defects in humans not confirmed.

The role of TBX18 in congenital heart defects in humans not confirmed.

Journal: European journal of human genetics : EJHG

Published: November 07, 2022

A comparison of the early motor repertoire of very preterm infants and term infants.

A comparison of the early motor repertoire of very preterm infants and term infants.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: October 29, 2020

Primrose syndrome: Characterization of the phenotype in 42 patients.

Primrose syndrome: Characterization of the phenotype in 42 patients.

Journal: Clinical genetics

Published: January 26, 2020

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.

Journal: Orphanet journal of rare diseases

Published: August 02, 2019

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

Journal: PLoS genetics

Published: December 21, 2018

Defining and describing birth centres in the Netherlands - a component study of the Dutch Birth Centre Study.

Defining and describing birth centres in the Netherlands - a component study of the Dutch Birth Centre Study.

Journal: BMC pregnancy and childbirth

Published: November 19, 2016

Associations between developmental trajectories of movement variety and visual attention in fullterm and preterm infants during the first six months postterm.

Associations between developmental trajectories of movement variety and visual attention in fullterm and preterm infants during the first six months postterm.

Journal: Early human development

Published: July 20, 2014

Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

Journal: JIMD reports

Published: July 01, 2014

Early visual attention in preterm and fullterm infants in relation to cognitive and motor outcomes at school age: an exploratory study.

Early visual attention in preterm and fullterm infants in relation to cognitive and motor outcomes at school age: an exploratory study.

Journal: Frontiers in pediatrics

Published: May 25, 2014

Showing 1-12 of 20

Last Updated: 09/26/2026