Pergande, Matthias

The genomic and clinical landscape of fetal akinesia. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 03 2020 - 511-523 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1530-0366

10.1038/s41436-019-0680-1 doi


Adolescent
Adult
Arthrogryposis--genetics
Child
Child, Preschool
DNA Copy Number Variations--genetics
Female
Fetal Diseases--genetics
Genetic Predisposition to Disease
Guanine Nucleotide Exchange Factors--genetics
High-Throughput Nucleotide Sequencing
Humans
Infant
Infant, Newborn
Male
Muscular Diseases--genetics
RNA-Binding Proteins--genetics
Ryanodine Receptor Calcium Release Channel--genetics
Trans-Activators--genetics
Young Adult