Genetic Testing

Developing a Sustainable Process to Provide Quality Control Materials for Genetic Testing

Genetics / Quality Control / Humans / Genetic Testing / United States / Clinical Sciences / Reproducibility of Results / Molecular Diagnostic Techniques / Government Regulation / Clinical Sciences / Reproducibility of Results / Molecular Diagnostic Techniques / Government Regulation

Benign retroperitoneal schwannoma presenting as colitis: A case report

Magnetic Resonance Imaging / Immunohistochemistry / Treatment Outcome / Case Report / Humans / Genetic Testing / World / Mutation / Female / Differential Diagnosis / Clinical Sciences / Colitis / Middle Aged / Spectrum / X ray Computed Tomography / Abdominal Pain / Schwann Cell / Diagnostic Criteria / DNA mutational analysis / Genetic Testing / World / Mutation / Female / Differential Diagnosis / Clinical Sciences / Colitis / Middle Aged / Spectrum / X ray Computed Tomography / Abdominal Pain / Schwann Cell / Diagnostic Criteria / DNA mutational analysis

Familial hypercholesterolemia in Brazil: Cascade screening program, clinical and genetic aspects

Lebanon / Atherosclerosis / Brazil / Humans / Genetic Testing / Mutation / Female / Male / Body Mass Index / Clinical Sciences / Aged / Middle Aged / Adult / Predictive value of tests / Mutation / Female / Male / Body Mass Index / Clinical Sciences / Aged / Middle Aged / Adult / Predictive value of tests

Glucocorticoid Receptor Pathway Components Predict Posttraumatic Stress Disorder Symptom Development: A Prospective Study

Transcription Factors / Gene expression / Biological Sciences / Biological Psychiatry / Humans / Genetic Testing / Posttraumatic stress disorder / Male / Biological / Young Adult / Risk factors / Cross Section / Risk Factors / Prospective Study / Genetic Testing / Posttraumatic stress disorder / Male / Biological / Young Adult / Risk factors / Cross Section / Risk Factors / Prospective Study

Spinocerebellar Ataxia Type 2 (SCA2): Clinical Features and Genetic Analysis

Adolescent / Rwanda / Movement disorders / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Pedigree / Phenotype / Genetic Analysis / Ophthalmoplegia / Female / Spinocerebellar ataxia / Pedigree / Phenotype / Genetic Analysis / Ophthalmoplegia

Spinocerebellar Ataxia Type 2 (SCA2): Clinical Features and Genetic Analysis

Adolescent / Rwanda / Movement disorders / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Pedigree / Phenotype / Genetic Analysis / Ophthalmoplegia / Female / Spinocerebellar ataxia / Pedigree / Phenotype / Genetic Analysis / Ophthalmoplegia

Human cystic fibrosis embryonic stem cell lines derived on placental mesenchymal stromal cells

Genetics / Tissue Engineering / Cystic Fibrosis / Induced Pluripotent Stem Cells (I Psc) / Human embryonic stem cell / Stem Cell / Cell line / Cell Differentiation / Humans / Genetic Testing / Mutation / Placenta / Female / Embryonic Stem Cell / Plant tissue Culture Techniques / Polymerase Chain Reaction / Drug Screening / Karyotyping / Embryonic Stem Cells / Stromal Cells / Mesenchymal Stromal Cells / Gene expression profiling / Stem Cell / Cell line / Cell Differentiation / Humans / Genetic Testing / Mutation / Placenta / Female / Embryonic Stem Cell / Plant tissue Culture Techniques / Polymerase Chain Reaction / Drug Screening / Karyotyping / Embryonic Stem Cells / Stromal Cells / Mesenchymal Stromal Cells / Gene expression profiling

Global developmental delay, osteopenia and ectodermal defect: A new syndrome

Genetics / Social Problems / Intellectual Disability / Brain development / Biopsy / Mental Retardation / Brain / Humans / Child / Genetic Testing / Female / Male / Developmental disabilities / Central Nervous System / Siblings / Skin / Melanocytes / Developmental delay / Syndrome / Sweat glands / Keratins / Mental Retardation / Brain / Humans / Child / Genetic Testing / Female / Male / Developmental disabilities / Central Nervous System / Siblings / Skin / Melanocytes / Developmental delay / Syndrome / Sweat glands / Keratins

Alpha-mannosidosis

Genetics / Orthopedic Surgery / Intellectual Disability / Genetic counseling / Humans / Sensorineural Hearing Loss / Genetic Testing / Mutation / Differential Diagnosis / Social Skill / Hearing Impaired / Motor Function / First Year / Prognosis / Protein Conformation / Autosomal Recessive / Hearing Aid / Lysosomal Storage Disorder / Sensorineural Hearing Loss / Genetic Testing / Mutation / Differential Diagnosis / Social Skill / Hearing Impaired / Motor Function / First Year / Prognosis / Protein Conformation / Autosomal Recessive / Hearing Aid / Lysosomal Storage Disorder

Developing a Sustainable Process to Provide Quality Control Materials for Genetic Testing

Genetics / Quality Control / Humans / Genetic Testing / United States / Clinical Sciences / Reproducibility of Results / Molecular Diagnostic Techniques / Clinical Sciences / Reproducibility of Results / Molecular Diagnostic Techniques

Developing a Sustainable Process to Provide Quality Control Materials for Genetic Testing

Genetics / Quality Control / Humans / Genetic Testing / United States / Clinical Sciences / Reproducibility of Results / Molecular Diagnostic Techniques / Clinical Sciences / Reproducibility of Results / Molecular Diagnostic Techniques

Heritability in frontotemporal dementia: more missing pieces?

Neurology / Humans / Genetic Testing / Female / Male / Clinical Sciences / Aged / Middle Aged / Frontotemporal Dementia / Alzheimer Disease / Neurosciences / Clinical Sciences / Aged / Middle Aged / Frontotemporal Dementia / Alzheimer Disease / Neurosciences

Global developmental delay, osteopenia and ectodermal defect: A new syndrome

Genetics / Social Problems / Intellectual Disability / Brain development / Biopsy / Mental Retardation / Brain / Humans / Child / Genetic Testing / Female / Male / Developmental disabilities / Central Nervous System / Siblings / Skin / Melanocytes / Developmental delay / Syndrome / Sweat glands / Keratins / Skin Biopsy / Mental Retardation / Brain / Humans / Child / Genetic Testing / Female / Male / Developmental disabilities / Central Nervous System / Siblings / Skin / Melanocytes / Developmental delay / Syndrome / Sweat glands / Keratins / Skin Biopsy

Spinocerebellar Ataxia Type 2 (SCA2): Clinical Features and Genetic Analysis

Adolescent / Rwanda / Movement disorders / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Pedigree / Phenotype / Genetic Analysis / Ophthalmoplegia / Female / Spinocerebellar ataxia / Pedigree / Phenotype / Genetic Analysis / Ophthalmoplegia

Familial pancreatic cancer

Pancreatic Cancer / Humans / Genetic Testing / Risk factors / Clinical Sciences / Risk Factors
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