Consanguinity

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia

Genetics / Magnetic Resonance Imaging / Turkey / Membrane Proteins / Intellectual Disability / Gene expression / Brain / Pregnancy / Humans / Female / Male / Gene Order / Infant / Pedigree / Phenotype / Clinical Sciences / Facies / Consanguinity / Bone and Bones / Pregnancy Outcome / Exome / Gene expression / Brain / Pregnancy / Humans / Female / Male / Gene Order / Infant / Pedigree / Phenotype / Clinical Sciences / Facies / Consanguinity / Bone and Bones / Pregnancy Outcome / Exome

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

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

Lethal congenital erythroderma: a newly recognised genetic disorder

Genetics / Humans / Female / Clinical / Clinical Genetics / Male / Pedigree / Clinical Sciences / Newborn Infant / Consanguinity / Genetic Disorder / Male / Pedigree / Clinical Sciences / Newborn Infant / Consanguinity / Genetic Disorder

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

Pure interstitial dup(6)(q22.31q22.31) ¿ a case report

Humans / Male / Developmental disabilities / Gene Duplication / Pedigree / Phenotype / Trisomy 21 / Consanguinity / Phenotype / Trisomy 21 / Consanguinity

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

Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases

Genetics / Magnetic Resonance Imaging / DNA / Brain / Pregnancy / Humans / Female / American / Clinical Sciences / Newborn Infant / Consanguinity / Prenatal Diagnosis / Peroxisomes / Base Sequence / Humans / Female / American / Clinical Sciences / Newborn Infant / Consanguinity / Prenatal Diagnosis / Peroxisomes / Base Sequence

Syndrome de Jarcho-Levin : à propos d’un cas

Humans / Male / Differential Diagnosis / Newborn Infant / Dwarfism / Scoliosis / Consanguinity / Thoracic Vertebrae / Syndrome / Ribs / lumbar vertebrae / Scoliosis / Consanguinity / Thoracic Vertebrae / Syndrome / Ribs / lumbar vertebrae

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

Merosin-deficient congenital muscular dystrophy and cortical dysplasia

Skeletal muscle biology / Magnetic Resonance Imaging / Biopsy / Humans / Cerebral Cortex / Female / Muscular Dystrophies / Infant / Clinical Sciences / Consanguinity / Neuronal Migration / Neurosciences / Occipital Lobe / Gliosis / Laminin / Female / Muscular Dystrophies / Infant / Clinical Sciences / Consanguinity / Neuronal Migration / Neurosciences / Occipital Lobe / Gliosis / Laminin

Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases

Genetics / Magnetic Resonance Imaging / DNA / Brain / Pregnancy / Humans / Female / American / Clinical Sciences / Newborn Infant / Consanguinity / Prenatal Diagnosis / Peroxisomes / Base Sequence / Child preschool / Humans / Female / American / Clinical Sciences / Newborn Infant / Consanguinity / Prenatal Diagnosis / Peroxisomes / Base Sequence / Child preschool

First prenatal diagnosis of acyl-CoA oxidase deficiency

Pregnancy / Humans / Fatty acids / Female / Oxidoreductases / Amniotic Fluid / Differential Diagnosis / Clinical Sciences / Adult / Consanguinity / Prenatal Diagnosis / Oxidation-Reduction / Immunoblotting / Amniotic Fluid / Differential Diagnosis / Clinical Sciences / Adult / Consanguinity / Prenatal Diagnosis / Oxidation-Reduction / Immunoblotting

Coeliac disease and multiple immunodeficiencies: case report of a diagnostic dilemma

Humans / Celiac Disease / Male / Young Adult / Differential Diagnosis / Clinical Sciences / Consanguinity / Clinical Sciences / Consanguinity

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