Eva-christina Prott
Wuppertal, NW, Germany
Last Updated: 09/26/2026
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Found 8 publications
LZTR1 loss-of-function variants associated with café au lait macules with or without freckling.
Journal: Frontiers in neurology
Published: February 25, 2024
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.
Journal: Human genetics
Published: February 15, 2024
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Journal: Journal of neuromuscular diseases
Published: July 10, 2023
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Journal: Brain : a journal of neurology
Published: May 13, 2022
Two cancer-predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li-Fraumeni syndrome.
Journal: Pediatric blood & cancer
Published: April 26, 2018
The influence of low molecular weight heparin medication on plasma DNA in pregnant women.
Journal: Prenatal diagnosis
Published: April 29, 2015
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Journal: American journal of human genetics
Published: August 21, 2014
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.
Journal: Behavioral and brain functions : BBF
Published: July 20, 2012
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Last Updated: 09/26/2026