Biopsy

Muscle pathology in dysferlin deficiency

Cognitive Science / Skeletal muscle biology / Membrane Proteins / Immunohistochemistry / Adolescent / Biopsy / Humans / Child / Female / Muscular Dystrophies / Male / Infant / Duchenne Muscular Dystrophy / Clinical Sciences / Middle Aged / Adult / Myositis / Neurosciences / Immunoblotting / Biopsy / Humans / Child / Female / Muscular Dystrophies / Male / Infant / Duchenne Muscular Dystrophy / Clinical Sciences / Middle Aged / Adult / Myositis / Neurosciences / Immunoblotting

Insights into human endometrial receptivity from transcriptomic and proteomic data

Proteomics / Gene expression / Biopsy / Pregnancy / Humans / Female / Phenotype / Protein Expression / Reproductive / Biological markers / Fertilization in Vitro / Endometrium / Gene Expression Regulation / Gene expression profiling / Female / Phenotype / Protein Expression / Reproductive / Biological markers / Fertilization in Vitro / Endometrium / Gene Expression Regulation / Gene expression profiling

Ocular myopathy and mitochondrial DNA deletion. A presentation of seven identified Danish patients

Biopsy / Denmark / Mitochondrial DNA / Humans / Clinical Sciences / Aged / Middle Aged / Optometry and Ophthalmology / Adult / Base Sequence / Neurosciences / Aged / Middle Aged / Optometry and Ophthalmology / Adult / Base Sequence / Neurosciences

Type III Collagen Deficiency in Saccular Intracranial Aneurysms : Defect in Gene Regulation?

Polymorphism / Biopsy / DNA / Stroke / Humans / Collagen / Polymerase Chain Reaction / Skin / Clinical Sciences / Prognosis / Human Fibroblasts / Genetic Markers / Neurosciences / Gene Expression Regulation / Collagen / Polymerase Chain Reaction / Skin / Clinical Sciences / Prognosis / Human Fibroblasts / Genetic Markers / Neurosciences / Gene Expression Regulation

Irlandés con fiebre y lesiones cutáneas

Medical Microbiology / Ireland / Biopsy / Syphilis / Humans / Headache / Male / Epidermis / Adult / Fever / Headache / Male / Epidermis / Adult / Fever

Alveolar capillary dysplasia: a logical approach to a fatal disease

Algorithms / Pulmonary Hypertension / Biopsy / Humans / Capillaries / Pediatric Surgery / Pediatric / Lung / Newborn Infant / Retrospective Studies / Prognosis / Extracorporeal Membrane Oxygenation / Pediatric Surgery / Pediatric / Lung / Newborn Infant / Retrospective Studies / Prognosis / Extracorporeal Membrane Oxygenation

Acute Myeloid Leukaemia Diagnosed by Intra-Oral Myeloid Sarcoma. A Case Report

Dentistry / Biopsy / Acute Myeloid Leukemia / Case Report / Humans / Myelodysplastic Syndrome / Female / Differential Diagnosis / Clinical Sciences / Oral Mucosa / Aged / Mouth Neoplasms / Mouth mucosa / Oral Cavity / Antineoplastic Agents / Myelodysplastic Syndrome / Female / Differential Diagnosis / Clinical Sciences / Oral Mucosa / Aged / Mouth Neoplasms / Mouth mucosa / Oral Cavity / Antineoplastic Agents

Topical application of vitamin A to oral leukoplakia: A clinical case series

Dentistry / Cancer / Treatment / Treatment Outcome / Biopsy / Oral and Maxillofacial Surgery / Vitamin A / Humans / Female / Male / Aged / Middle Aged / Topical Drug Administration / Gingival Neoplasms / Adult / Time Factors / Oral and Maxillofacial Surgery / Vitamin A / Humans / Female / Male / Aged / Middle Aged / Topical Drug Administration / Gingival Neoplasms / Adult / Time Factors

Antenatal Diagnosis of Recessive Dystrophic Epidermolysis Bullosa: Collagenase Expression in Cultured Fibroblasts as a Biochemical Marker

Genetics / Electron Microscopy / Cell Culture / Biopsy / Humans / Epidermolysis Bullosa / Skin / Epidermis / Clinical Sciences / Prenatal Diagnosis / INVESTIGATIVE / Skin Biopsy / Microbial collagenase / Epidermolysis Bullosa / Skin / Epidermis / Clinical Sciences / Prenatal Diagnosis / INVESTIGATIVE / Skin Biopsy / Microbial collagenase

Antenatal Diagnosis of Recessive Dystrophic Epidermolysis Bullosa: Collagenase Expression in Cultured Fibroblasts as a Biochemical Marker

Genetics / Electron Microscopy / Cell Culture / Biopsy / Humans / Epidermolysis Bullosa / Skin / Epidermis / Clinical Sciences / Prenatal Diagnosis / INVESTIGATIVE / Skin Biopsy / Microbial collagenase / Epidermolysis Bullosa / Skin / Epidermis / Clinical Sciences / Prenatal Diagnosis / INVESTIGATIVE / Skin Biopsy / Microbial collagenase

Genetic characteristics of myoadenylate deaminase deficiency

Genetics / Skeletal muscle biology / Comparative Study / Biopsy / DNA / Humans / Polymerase Chain Reaction / Frequency / Genetic determinism / Clinical Sciences / Deficiency / Neuromuscular diseases / Chi Square Distribution / Physical Exercise / Base Sequence / Deficit / Exercise Test / Neurosciences / Humans / Polymerase Chain Reaction / Frequency / Genetic determinism / Clinical Sciences / Deficiency / Neuromuscular diseases / Chi Square Distribution / Physical Exercise / Base Sequence / Deficit / Exercise Test / Neurosciences

Immune Responses to Intramuscular Administration of Alipogene Tiparvovec (AAV1-LPL S447X ) in a Phase II Clinical Trial of Lipoprotein Lipase Deficiency Gene Therapy

Skeletal muscle biology / Inflammation / Gene expression / Biopsy / Humans / Medical Biotechnology / Clinical Sciences / Time Factors / Medical Biotechnology / Clinical Sciences / Time Factors

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

Genetics / Molecular Biology / Dermatology / Molecular Genetics / Biopsy / ABC transporters / Humans / Kidney / Liver / Mutation / Mice / Animals / Phenotype / Clinical Sciences / Experimental / ABC transporters / Humans / Kidney / Liver / Mutation / Mice / Animals / Phenotype / Clinical Sciences / Experimental

Mitochondrial activity in pompe’s disease

Electron Microscopy / Mitochondria / Pediatric Neurology / Biopsy / Humans / Female / Muscles / Infant / Mitochondrial Respiratory Chain / Differential Diagnosis / Electron Transport / Enzyme / Newborn Infant / Skeletal Muscle / Specific Activity / Enzyme activity / Glycogen / Neurosciences / Oxidation-Reduction / Citrate Synthase / Clinical Diagnosis / Oxidative Metabolism / Female / Muscles / Infant / Mitochondrial Respiratory Chain / Differential Diagnosis / Electron Transport / Enzyme / Newborn Infant / Skeletal Muscle / Specific Activity / Enzyme activity / Glycogen / Neurosciences / Oxidation-Reduction / Citrate Synthase / Clinical Diagnosis / Oxidative Metabolism

Mitochondrial complex i deficiency in a female with multiplex arthrogryposis congenita

Skeletal muscle biology / Mitochondria / Energy Metabolism / Pediatric Neurology / Biopsy / Humans / Child / Female / Specific Activity / Oxidative phosphorylation / Neurosciences / Arthrogryposis / Humans / Child / Female / Specific Activity / Oxidative phosphorylation / Neurosciences / Arthrogryposis

Esophageal papillomatosis complicated by squamous cell carcinoma in situ

Endoscopy / Biopsy / Humans / Female / Squamous Cell Carcinoma / Differential Diagnosis / Clinical Sciences / Aged / Oral Squamous Cell Carcinoma (OSCC) / Precancerous Conditions / Differential Diagnosis / Clinical Sciences / Aged / Oral Squamous Cell Carcinoma (OSCC) / Precancerous Conditions

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