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Consanguinity
Consanguinity
Cryptic Exon Activation by Disruption of Exon Splice Enhancer: NOVEL MECHANISM CAUSING 3-METHYLCROTONYL-CoA CARBOXYLASE DEFICIENCY
Biological Chemistry / Biological Sciences / Humans / Mutation / Alternative splicing / Skin / CHEMICAL SCIENCES / Consanguinity / Alternative Splicing / DNA mutational analysis / Skin / CHEMICAL SCIENCES / Consanguinity / Alternative Splicing / DNA mutational analysis
Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation
Genetics / Pathology / Cognitive Science / Skeletal muscle biology / Magnetic Resonance Imaging / Epilepsy / Histology / Immunohistochemistry / Creatine / Magnetic Resonance Spectroscopy / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Microcephaly / Female / Muscular Dystrophies / Male / Muscles / Infant / Developmental disabilities / Cataract / D-Aspartic Acid / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Spectrum / Fluorescent Antibody Technique / Family Health / Facies / Adult / Neuromuscular Disorders / Time Factors / Consanguinity / Nuclear Family / Neuronal Migration / Neuropediatrics / Dystrophin / X ray Computed Tomography / Choline / Nuclear Magnetic Resonance Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Nino / Myelin Sheath / Magnetic resonance image / Laminin / Congenital muscular dystrophy / Child preschool / Epilepsy / Histology / Immunohistochemistry / Creatine / Magnetic Resonance Spectroscopy / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Microcephaly / Female / Muscular Dystrophies / Male / Muscles / Infant / Developmental disabilities / Cataract / D-Aspartic Acid / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Spectrum / Fluorescent Antibody Technique / Family Health / Facies / Adult / Neuromuscular Disorders / Time Factors / Consanguinity / Nuclear Family / Neuronal Migration / Neuropediatrics / Dystrophin / X ray Computed Tomography / Choline / Nuclear Magnetic Resonance Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Nino / Myelin Sheath / Magnetic resonance image / Laminin / Congenital muscular dystrophy / Child preschool
Parentesco, consanguinidad y modelos matrimoniales en la huerta de Murcia en los siglos XVIII-XIX: La consanguinidad múltiple.
Kinship (Anthropology) / Anthropology of Kinship / Consanguineous marriages / Familia Y Matrimonio / Consanguinity / EN LA ACTUALIDAD TRABAJO TEMAS DE CONSANGUINIDAD Y PARENTESCO
Bile acid-CoA ligase deficiency—a new inborn error of bile acid metabolism
Pakistan / Humans / Female / Inborn errors of metabolism / Phenotype / Clinical Sciences / Genotype / Consanguinity / Gas Chromatography/mass Spectrometry / Clinical Sciences / Genotype / Consanguinity / Gas Chromatography/mass Spectrometry
Bile acid-CoA ligase deficiency—a new inborn error of bile acid metabolism
Pakistan / Humans / Female / Inborn errors of metabolism / Phenotype / Clinical Sciences / Genotype / Consanguinity / Gas Chromatography/mass Spectrometry / Clinical Sciences / Genotype / Consanguinity / Gas Chromatography/mass Spectrometry
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia
Molecular Genetics / Adolescent / Humans / Female / Animals / Levodopa / Dystonia / Clinical Sciences / Consanguinity / Diurnal Variation / Biological markers / Developmental delay / Autosomal Recessive / Levodopa / Dystonia / Clinical Sciences / Consanguinity / Diurnal Variation / Biological markers / Developmental delay / Autosomal Recessive
Aromatic L-Amino Acid Decarboxylase Deficiency Is a Cause of Long-Fasting Hypoglycemia
Cognitive Science / Neurology / Magnetic Resonance Imaging / Treatment Outcome / Adolescent / Movement disorders / Dopamine / Cerebrospinal Fluid / Brain / Pregnancy / Humans / Child / Hemodynamics / Female / Inborn errors of metabolism / Male / Young Adult / Infant / Follow-up studies / Amniotic Fluid / Differential Diagnosis / Pedigree / Levodopa / Child Neurology / Clinical Sciences / Newborn Infant / European / Longitudinal Studies / Pyridoxine / Adult / Consanguinity / Retrospective Studies / Neuropediatrics / Combination drug therapy / Amino Acid Profile / Biogenic amines / Autosomal Recessive / Clinical Presentation / Neurosciences / Nervous System Diseases / Age of Onset / Movement Disorder / Bromocriptine / Serotonin Uptake Inhibitors / Founder Effect / Medical Treatment / Movement disorders / Dopamine / Cerebrospinal Fluid / Brain / Pregnancy / Humans / Child / Hemodynamics / Female / Inborn errors of metabolism / Male / Young Adult / Infant / Follow-up studies / Amniotic Fluid / Differential Diagnosis / Pedigree / Levodopa / Child Neurology / Clinical Sciences / Newborn Infant / European / Longitudinal Studies / Pyridoxine / Adult / Consanguinity / Retrospective Studies / Neuropediatrics / Combination drug therapy / Amino Acid Profile / Biogenic amines / Autosomal Recessive / Clinical Presentation / Neurosciences / Nervous System Diseases / Age of Onset / Movement Disorder / Bromocriptine / Serotonin Uptake Inhibitors / Founder Effect / Medical Treatment
Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation
Pathology / Cognitive Science / Skeletal muscle biology / Magnetic Resonance Imaging / Epilepsy / Histology / Immunohistochemistry / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Female / Muscular Dystrophies / Male / Muscles / Infant / Cataract / Central Nervous System / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Fluorescent Antibody Technique / Skeletal Muscle / Adult / Neuromuscular Disorders / Time Factors / Scoliosis / Consanguinity / Neuronal Migration / Neuropediatrics / Torticollis / Dystrophin / X ray Computed Tomography / Nuclear Magnetic Resonance Imaging / Mr Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Occipital Lobe / Nino / Myelin Sheath / Histology / Immunohistochemistry / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Female / Muscular Dystrophies / Male / Muscles / Infant / Cataract / Central Nervous System / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Fluorescent Antibody Technique / Skeletal Muscle / Adult / Neuromuscular Disorders / Time Factors / Scoliosis / Consanguinity / Neuronal Migration / Neuropediatrics / Torticollis / Dystrophin / X ray Computed Tomography / Nuclear Magnetic Resonance Imaging / Mr Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Occipital Lobe / Nino / Myelin Sheath
Reversible deafness caused by biotinidase deficiency
Pediatric Neurology / Humans / Male / Infant / Hearing Loss / Biotin / Deafness / Consanguinity / Neurosciences / Biotin / Deafness / Consanguinity / Neurosciences
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis
Genetics / Blindness / Membrane Proteins / Humans / Child / Mutation / Clinical Sciences / Consanguinity / Biological markers / Molecular Diagnostic Techniques / Guanylate Cyclase / Case Control Studies / Mutation / Clinical Sciences / Consanguinity / Biological markers / Molecular Diagnostic Techniques / Guanylate Cyclase / Case Control Studies
Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome)
Rape / Magnetic Resonance Imaging / Face / Brain development / Mental Retardation / Brain / Pregnancy / Humans / Corpus Callosum / Cerebellum / Female / Thorax / Male / Infant / Differential Diagnosis / Newborn Infant / Adult / Consanguinity / X ray Computed Tomography / Syndrome / Brain / Pregnancy / Humans / Corpus Callosum / Cerebellum / Female / Thorax / Male / Infant / Differential Diagnosis / Newborn Infant / Adult / Consanguinity / X ray Computed Tomography / Syndrome
Cerebro-costo-mandibular syndrome: A case report
Pediatrics / Case Report / Humans / Male / Consanguinity / Syndrome / Ribs / Syndrome / Ribs
Fatal familial infantile glycogen storage disease: Multisystem phosphofructokinase deficiency
Electron Microscopy / Israel / Biopsy / Humans / Muscle / Phosphofructokinase / Female / Male / Muscles / Infant / Ethnic Groups / Consanguinity / Glycogen / Phosphofructokinase / Female / Male / Muscles / Infant / Ethnic Groups / Consanguinity / Glycogen
d-3-Hydroxyacyl-CoA Dehydratase/d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal Disorder
Japan / Biological Sciences / Humans / Liver / Fatty acids / Female / Polymerase Chain Reaction / Infant / Fluorescent Antibody Technique / Consanguinity / Multienzyme complexes / Human Fibroblasts / Oxidation-Reduction / The American / Female / Polymerase Chain Reaction / Infant / Fluorescent Antibody Technique / Consanguinity / Multienzyme complexes / Human Fibroblasts / Oxidation-Reduction / The American
3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia
Magnetic Resonance Imaging / Saudi Arabia / Brain / Humans / Female / Male / Magnetic Resonance / Early development / Enzyme / Clinical Sciences / Newborn Infant / Atrophy / Consanguinity / Computerized tomography / Enzyme activity / Lymphocytes / Human Fibroblasts / X ray Computed Tomography / Clinical Presentation / White Matter Lesions / Organic Acid / Mass Spectrometer / Male / Magnetic Resonance / Early development / Enzyme / Clinical Sciences / Newborn Infant / Atrophy / Consanguinity / Computerized tomography / Enzyme activity / Lymphocytes / Human Fibroblasts / X ray Computed Tomography / Clinical Presentation / White Matter Lesions / Organic Acid / Mass Spectrometer
Reproductive pattern in consanguineous and non-consanguineous marriages in La Cabrera, Spain
Fertility / Spain / Humans / Female / Male / Infant / Registries / Middle Aged / Adult / Birth Rate / Infant Mortality / Consanguinity / Biochemistry and cell biology / Infant / Registries / Middle Aged / Adult / Birth Rate / Infant Mortality / Consanguinity / Biochemistry and cell biology
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