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Mandibuloacral dysplasia
A Mutation in Lamin A/C Gene Previously Known to Cause Emery
Blueprint Genetics Comprehensive Growth Disorders / Skeletal
Prenatalscreen® Standard Technical Report
Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders
Arthrogryposis and Congenital Myasthenic Syndrome Precision Panel
Blueprint Genetics Left Ventricular Non-Compaction Cardiomyopathy
Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel
25. C:\Documents and Settings\Kwang-Il\My
The Congenital and Limb-Girdle Muscular Dystrophies Sharpening the Focus, Blurring the Boundaries
Mandibuloacral Dysplasia: a Premature Ageing Disease with Aspects of Physiological Ageing
Unweaving the Role of Nuclear Lamins in Neural Circuit Integrity
A Complex LINC Between Nuclear Envelope and Pathology
Please Find the Updated Gene List Here
Loss of MTX2 Causes Mandibuloacral Dysplasia and Links Mitochondrial Dysfunction to Altered Nuclear Morphology
Arrhythmic Genotypes in Familial Dilated Cardiomyopathy 33
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Connective Tissue Disorders
Top View
Review LAMINOPATHIES
Prevalence of Rare Diseases: Bibliographic Data
A Clinical Study on Genodermatoses and Their Effect On
Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:1
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
The Protein Mutated in Melorheostosis
Mandibuloacral Dysplasia Type A-Associated Progeria Caused by Homozygous LMNA Mutation in a Family from Southern China
Reticulate Pigmentary Disorders Article
The Limb-Girdle Muscular Dystrophies
Diseases of the Nuclear Envelope
Newborndxtm Advanced Sequencing Evaluation Disorders List
Mandibuloacral Dysplasia Caused by Homozygosity for the R527H Mutation in Lamin A/C J J Shen, C a Brown, J R Lupski, L Potocki
Diagnosed Cases of Rare Diseases at CENTOGENE January 2012 to June 2016
Review Article Genetic Bone Deformities and Its Treatment At
Identification and Characterization of Peripherin Isoforms in Amyotrophic Lateral Sclerosis
Rare Disease Registries in Europe
Skin Disorders Panel Versie V4 (337 Genen) Centrum Voor Medische Genetica Gent
Preconception Genetic Carrier Screen
Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel
Paediatric Cardiomyopathy.Pdf
Cutaneous and Metabolic Defects Associated with Nuclear Abnormalities in a Transgenic Mouse Model Expressing R527H Lamin a Mutat
Individual Genome Sequence Gene List (By Disease)
Blueprint Genetics Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel
Compound Heterozygous ZMPSTE24 Mutations Reduce Prelamin A
Prevalence and Incidence of Rare Diseases: Bibliographic Data
LMNA Gene Lamin A/C
Loss of MTX2 Causes Mandibuloacral Dysplasia and Links Mitochondrial Dysfunction to Altered Nuclear Morphology
Prevalence and Incidence of Rare Diseases
The Skeletal Dysplasias Deborah Krakow, MD1, and David L
Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins
OMIM Mendelian Gene List V2.0
Orphanet Report Series Rare Diseases Collection
Lamins and Bone Disorders: Current Understanding and Perspectives
Recessive Gene List V2.0
Disease ID Disorder Name Gene Symbols OMIM ID