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Select article: A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report

Open access

Case report

First published 2021

A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report

Alexa Derksen, Amytice Mirchi, Luan T. Tran [...]

Child Neurology Open

Select article: Intrafamilial Variability of the R694C Variant in BICD2 Presenting with Lethal Severe Arthrogryposis

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Case report

First published March, 2022

Intrafamilial Variability of the R694C Variant in BICD2 Presenting with Lethal Severe Arthrogryposis

Francisco Ribeiro-Mourão, Ana Vilan, Sara Passos-Silva [...]

Journal of Neonatology

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