Neurogenic arthrogryposis and the power of phenotyping
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
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1. Heterogenic Genetic Background of Distal Arthrogryposis—Review of the Literature and Case Report;Children;2024-07-16
2. Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant;Frontiers in Genetics;2023-03-09
3. Early onset hereditary neuronopathies: an update on non-5qmotor neuron diseases;Brain;2022-11-29
4. Hereditary motor neuropathies;Current Opinion in Neurology;2022-08-08
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