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Aisling Carr

Showing results (21-30 of 25) with videos related to

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The Lancet. Rheumatology|January 23, 2024
Diagnosis and investigation of suspected haemophagocytic lymphohistiocytosis in adults: 2023 Hyperinflammation and HLH Across Speciality Collaboration (HiHASC) consensus guidelineMiriam F Cox, Strachan Mackenzie, Ryan Low, et al.
Neuromuscular Disorders : NMD|January 12, 2023
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1Pedro M Rodríguez Cruz, Gianina Ravenscroft, Daniel Natera, et al.
Brain : a Journal of Neurology|May 14, 2019
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutationsPedro M Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, et al.
American Journal of Human Genetics|March 7, 2020
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain CalcificationLucia V Schottlaender, Rosella Abeti, Zane Jaunmuktane, et al.
Brain : a Journal of Neurology|May 10, 2021
RFC1 expansions are a common cause of idiopathic sensory neuropathyRiccardo Currò, Alessandro Salvalaggio, Stefano Tozza, et al.
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Showing results (21-30 of 25) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 25 results.
The Lancet. Rheumatology|January 23, 2024
Diagnosis and investigation of suspected haemophagocytic lymphohistiocytosis in adults: 2023 Hyperinflammation and HLH Across Speciality Collaboration (HiHASC) consensus guidelineMiriam F Cox, Strachan Mackenzie, Ryan Low, et al.
Neuromuscular Disorders : NMD|January 12, 2023
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1Pedro M Rodríguez Cruz, Gianina Ravenscroft, Daniel Natera, et al.
Brain : a Journal of Neurology|May 14, 2019
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutationsPedro M Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, et al.
American Journal of Human Genetics|March 7, 2020
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain CalcificationLucia V Schottlaender, Rosella Abeti, Zane Jaunmuktane, et al.
Brain : a Journal of Neurology|May 10, 2021
RFC1 expansions are a common cause of idiopathic sensory neuropathyRiccardo Currò, Alessandro Salvalaggio, Stefano Tozza, et al.
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