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Danon disease
Pathogenic Variant Identified
Danon Disease Dr
6 the Glycogen Storage Diseases and Related Disorders
Danon Disease
Genetic Testing Medical Policy – Genetics
Genes Covered and Disorders Detected by X-HR Microarray
Generation of Induced Pluripotent Stem Cells from a Female Patient with a Xq27.3-Q28 Deletion to Establish Disease Models and Identify Therapies
Clinical Manifestation in Females with X-Linked Metabolic Disorders
Danon's Disease As a Cause of Hypertrophic
Danon Disease: Gender Differences in Presentation and Outcomes
Lysosomal Storage Disease Panel by Next-Generation Sequencing
Neurodevelopment Next-Generation
Glycogen Metabolism and Glycogen Storage Disorders
Hypertrophic Cardiomyopathy Testing
Biochemical and Clinical Aspects of Glycogen Storage Diseases
Nuove Politiche Per L'innovazione Nel Settore Delle Scienze Della Vita
Human Heart Disease: Lessons from Human Pluripotent Stem Cell-Derived Cardiomyocytes
Lysosomal Abnormalities in Cardiovascular Disease
Top View
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the Babyseq Project
Metabolic Alterations in Inherited Cardiomyopathies
2018-Genetic Infiltrative Cardiomyopathies
The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders
Seven Additional Newborn Screening Disorders Coming to NJ: Are You Ready?
Lysosomal Storage Diseases ª the Author(S) 2014 DOI: 10.1177/2326409813517663 Iem.Sagepub.Com
Danon Disease
Dilated Cardiomyopathy Panel, Sequencing
Danon Disease: Focusing on Heart
LAMP2 Sequencing Indication
Systemic AAV9.LAMP2B Injection Reverses
Appendix A: Medications Used in the Treatment of Inborn Errors
Pan Cardiomyopathy Panel (62 Genes) Association
January 4, 2020 the Honorable Frank Pallone Chairman Committee On
Diagnosed Cases of Rare Diseases at CENTOGENE January 2012 to June 2016
Copyrighted Material
Intravenously Administered Gene Therapy for Neuronopathic Gaucher Disease
Cardiomyopathies in Children: Mitochondrial and Storage Disease
Neurometabolic Disorders
Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar
Identification of TAZ Mutations in Pediatric Patients With
Application of Patient-Specific Ipscs for Modelling and Treatment of X
Cardiomyopathy in Childhood: Histopathological and Genetic Features
Congenital Muscular Dystrophies and Myopathies Precision Panel
1 Genetic Counseling: Preconception, Prenatal and Perinatal
Blueprint Genetics X-Linked Intellectual Disability Panel
Next Generation Sequencing Panel for Neuromuscular Disorders
Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: a Review
Dosage Compensation in Females with X-Linked Metabolic Disorders
Inheritest® Carrier Screen 500 PLUS Panel Understanding More Means Empowering More Your Patients Are Asking for Even More Insight As They Plan for the Future
WO 2018/035377 Al 22 February 2018 (22.02.2018) W !P O PCT
Newborn Screening of Lysosomal Storage Disorders Review
The Wonder Years – Gene Therapy Enters the Age of Adolescence
ORD Resources Report
Newborn Genetic Analysis
Lysosomal Storage Disorders Affecting the Heart: a Review
Blueprint Genetics Lysosomal Disorders And
Danon Disease
Multisystemic LAMP-2 Defect in Danon Disease Marina Fanin (1,2), Anna C
Update on the Epidemiology and Genetics of Myopic Refractive Error
AAV-Based Gene Therapy Products: Ongoing Clinical Trials