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Publications by Aqeela Al-Hashim

a Novel Intronic Mutation in MTM1 Detected by RNA Analysis in a Case of X-Linked Myotubular Myopathy

Neurology: Genetics
NeurologyGenetics
2017English

Related publications

402. Gait Function in a Canine Model of X-Linked Myotubular Myopathy After Systemic Delivery of AAV8-MTM1

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X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome

2020English

36. AAV-MTM1 Prolongs Survival and Rescues Severe Muscle Weakness in Mouse and Canine Models of X-Linked Myotubular Myopathy

Molecular Therapy
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Endoscopic Third Ventriculostomy With Choroid Plexus Coagulation for Treatment of Hydrocephalus in X-Linked Myotubular Myopathy: A Novel Approach

Cureus
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606. Restricting MTM1 Transgene Expression to Skeletal Muscle in AAV-Mediated Gene Therapy for Myotubular Myopathy

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A Novel Mutation in a Kazakh Family With X-Linked Alport Syndrome

PLoS ONE
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Prenatal Diagnosis of X-Linked Centronuclear Myopathy by Linkage Analysis

Pediatric Research
Child HealthPediatricsPerinatology
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Identification of a Novel Nonsense Mutation in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1: A Case Report

BMC Medical Genetics
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NOVEL Intronic CAPN3 Roma Mutation Alters Splicing Causing RNA Mediated Decay

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