Matthias Pergande
Duesseldorf, NW, Germany
Last Updated: 09/26/2026
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Found 9 publications
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Journal: European journal of human genetics : EJHG
Published: December 21, 2022
Correction: The genomic and clinical landscape of fetal akinesia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 27, 2020
Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy.
Journal: Neuropediatrics
Published: July 19, 2019
The genomic and clinical landscape of fetal akinesia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 29, 2019
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
Journal: Frontiers in neuroscience
Published: May 27, 2019
A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation.
Journal: Brain & development
Published: December 15, 2017
Molecular autopsy in maternal-fetal medicine.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 17, 2017
Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.
Journal: Brain & development
Published: September 18, 2016
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.
Journal: Journal of human genetics
Published: August 12, 2016
Showing 1-9 of 9
Last Updated: 09/26/2026