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- Genomeposter2009.Pdf
- Magnetic Resonance Imaging Findings in Adult-Form Myotonic Dystrophy Type 1
- Differential Diagnosis of Myotonic Disorders
- Established Conditions List (PDF)
- Basic Understanding Anticipation Gene, Lead to Manifestation Oral Disease: a Review Article
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
- Imaging in Myotonic Dystrophy Type 1 – Case Reports
- Genetic Mapping of a Third Li-Fraumeni Syndrome Predisposition Locus to Human Chromosome 1Q23
- Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the Babyseq Project
- Congenital Muscular Dystrophy: from Muscle to Brain Raffaele Falsaperla1, Andrea D
- Myotonic Dystrophy
- Myotonic Dystrophy Type 1 with Anterior Temporal White Matter
- Myotonic Dystrophy Type 1 (Steinert's Disease)
- Myotonic Dystrophy: Making an Informed Choice About Genetic Testing
- Biennial Report on the Rare Diseases Research Activities at the National Institutes of Health FY 2006
- An Index of Syndromes and Their Anaesthetic Implications
- What Are Other Names for Myotonic Dystrophy?
- Gene Therapy in Monogenic Congenital Myopathies ⇑ Xuan Guan A,B,C,1, Melissa A
- REVIEW the Genetics of Familial Leukemia M Horwitz
- Gabriella Miller Kids First Pediatric Research Program
- Comparison of Brain Magnetic Resonance Imaging Between
- Shortening Trinucleotide Repeats Using Highly Specific Endonucleases: a Possible Approach to Gene Therapy? Guy-Franck Richard
- RNA Biology of Disease-Associated Microsatellite Repeat Expansions Kushal J
- Diagnosed Cases of Rare Diseases at CENTOGENE January 2012 to June 2016
- DNA Hypermethylation and Unstable Repeat Diseases: a Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms
- Rare Disease Registries in Europe
- Review Article the Myotubular Myopathies: Differential Diagnosis of the Xlinked Recessive, Autosomal Dominant, Andautosomal Rece
- DNA Methylation in the Diagnosis of Monogenic Diseases
- Genetics of Myotonic Dystrophy
- Analysis of Highly Conserved Regions of the 3'UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other
- Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review with Cross-Species Comparisons
- Analysis of Highly Conserved Regions of the 3'UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other
- Type 1 Established Condition List
- What Is Myotonic Dystrophy?
- 1. Congenital Urea Cycle Disorders 2. Citrullinemia 3
- Comprehensive Genetic Test Menu
- Phs001516.V1.P1 OMIM ID
- Concomitant Brain Infarcts, Calcification, Or
- X-Linked Myotubular Myopathy And
- Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy
- Identification and Chromosomal Localization of Human Genes Containing CAG/CTG Repeats Expressed in Testis and Brain
- Younger Age of Cancer Initiation Is Associated with Shorter Telomere
- Newer Genetics in Mental Retardation - I: Fragile X Syndrome and Triplet Repeat Mutations
- Consensus-Based Care Recommendations for Children with Myotonic Dystrophy Type 1 Consensus-Based Care Recommendations for Children with Myotonic Dystrophy Type 1
- Prevalence and Incidence of Rare Diseases
- Pseudohypoparathyroidism, Albright's Hereditary Osteodystrophy, And
- MDF Toolkit Copyright © 2015 Myotonic Dystrophy Foundation TABLE of CONTENTS
- PGT-M Disease List
- PGT-M Disease List
- Genomic DNA Copy Number Variations and Cancer: Studies of Li-Fraumeni Syndrome and Its Variants
- OMIM Mendelian Gene List V2.0
- Laboratory Abnormalities in Patients with Myotonic Dystrophy Type 2
- Reported Incidence Ofat Least One Muscle Cramp in Dutch Adults in 1988
- Mendelian Disorders Among Jews
- Letters to the Editor Presymptomatic