Associated Papers
Expanding MNS1 Heterotaxy Phenotype.
Maraval J et al.
American Journal of Medical Genetics. Part A, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.
Potrony M et al.
Journal of Clinical Medicine, 2022
Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome.
Reischer T et al.
Prenatal Diagnosis, 2020
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
Maluenda J et al.
American Journal of Human Genetics, 2016
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