Luitgard M. Neumann-Graul

Berlin, BE, Germany

Last Updated: 09/26/2026

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Found 39 publications

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

Journal: European journal of human genetics : EJHG

Published: January 24, 2024

A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.

A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.

Journal: American journal of medical genetics. Part A

Published: September 14, 2021

Genome sequencing in families with congenital limb malformations.

Genome sequencing in families with congenital limb malformations.

Journal: Human genetics

Published: March 18, 2021

More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly.

More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly.

Journal: Neurogenetics

Published: February 11, 2021

An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.

An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.

Journal: European journal of medical genetics

Published: December 23, 2019

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

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

Published: November 13, 2019

Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Journal: Clinical genetics

Published: August 07, 2019

PEDIA: prioritization of exome data by image analysis.

PEDIA: prioritization of exome data by image analysis.

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

Published: December 13, 2018

Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum.

Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum.

Journal: European journal of medical genetics

Published: April 10, 2018

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

Journal: European journal of medical genetics

Published: September 11, 2017

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

Journal: European journal of medical genetics

Published: July 31, 2017

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.

Journal: Molecular cytogenetics

Published: June 01, 2017

Showing 1-12 of 39

Last Updated: 09/26/2026