Concepedia

Matthias Pergande

MP

Statistics

Publications

7

Citations

356

H-Index

7

Active since

2016

Affiliations

University Hospital Cologne(Current)

University of Cologne

University of Bonn

Matthias Pergande is an author at University Hospital Cologne specializing in genetic disorders, genetics, and life sciences.

Publications per year

2016–2023

7

Publications

7

Molecular autopsy in maternal–fetal medicine

Hanan E. Shamseldin, Wesam Kurdi, Fatima Almusafri et al. · Genetics in Medicine · 2017 · 125 citations · Full text

, , +17

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects

Göknur Haliloğlu, Kerstin Becker, Beril Talim et al. · Journal of Human Genetics · 2016 · 79 citations

, , +10

The genomic and clinical landscape of fetal akinesia

Matthias Pergande, Susanne Motameny, Özkan Özdemir et al. · Genetics in Medicine · 2019 · 54 citations · Full text

, , +9

A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation

Daniel Bamborschke, Matthias Pergande, Kerstin Becker et al. · Brain and Development · 2018 · 50 citations

, , +16

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

Henry Oppermann, Elia Marcos-Grañeda, Linnea A. Weiss et al. · European Journal of Human Genetics · 2023 · 20 citations · Full text

, , +17

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