Heike Weigand

Dr. Von Hauner Children's Hospital
Munich, BY, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 12 publications

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

MCT8 Deficiency in Infancy: Opportunities for Early Diagnosis and Screening.

MCT8 Deficiency in Infancy: Opportunities for Early Diagnosis and Screening.

Journal: International journal of neonatal screening

Published: June 16, 2025

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders.

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders.

Journal: American journal of medical genetics. Part A

Published: April 17, 2025

Precision Medicine in Angelman Syndrome.

Precision Medicine in Angelman Syndrome.

Journal: Neuropediatrics

Published: August 21, 2024

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: July 19, 2023

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

Journal: Clinical genetics

Published: January 23, 2023

Improved Macro- and Micronutrient Supply for Favorable Growth and Metabolomic Profile with Standardized Parenteral Nutrition Solutions for Very Preterm Infants.

Improved Macro- and Micronutrient Supply for Favorable Growth and Metabolomic Profile with Standardized Parenteral Nutrition Solutions for Very Preterm Infants.

Journal: Nutrients

Published: August 24, 2022

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.

Journal: Human genetics

Published: November 17, 2021

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.

Journal: Journal of medical genetics

Published: January 28, 2021

SYT1-associated neurodevelopmental disorder: a case series.

SYT1-associated neurodevelopmental disorder: a case series.

Journal: Brain : a journal of neurology

Published: November 02, 2017

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: July 06, 2016

Neurodevelopmental and esthetic results in children after surgical correction of metopic suture synostosis: a single institutional experience.

Neurodevelopmental and esthetic results in children after surgical correction of metopic suture synostosis: a single institutional experience.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: May 30, 2013

Showing 1-12 of 12

Last Updated: 09/26/2026