Medical Genetics

ANTROPOLOGÍA DEL CUERPO Y MEDICINA CRÍTICA: DEL ENCARNIZAMIENTO TERAPÉUTICO AL CONCEPTO DE MUERTE CLÍNICA; JUGANDO A SER DIOSES

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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Medical Genetics / Gene expression / Biological Sciences / Humans / Mutation / Mitochondrial Diseases / Amino Acid Substitution Rates / Exome / Mitochondrial Diseases / Amino Acid Substitution Rates / Exome

Genética y medicina molecular en cardiología

Genetics / Medical Genetics / Molecular Medicine / Cardiovascular disease / Human Genome Project / Gen

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Medical Genetics / Gene expression / Biological Sciences / Humans / Mutation / Mitochondrial Diseases / Amino Acid Substitution Rates / Exome / Mitochondrial Diseases / Amino Acid Substitution Rates / Exome

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome

Genética y medicina molecular en cardiología

Genetics / Medical Genetics / Molecular Medicine / Cardiovascular disease / Human Genome Project / Gen

Oral–facial–digital syndromes: Review and diagnostic guidelines

Genetics / Medical Genetics / Face / Humans / Mice / Animals / American / Phenotype / Clinical Sciences / Syndrome / Animals / American / Phenotype / Clinical Sciences / Syndrome

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

Genetics / Medical Genetics / Young People / Next generation sequencing / Biological Sciences / Clinical Practice / Humans / Mutation Detection / Cost effectiveness / Professional Practice / Sudden Cardiac Death / Genetic variation / Large Scale / Hypertrophic Cardiomyopathy / Cardiac Disease / Nucleotides / Medical / Clinical Practice / Humans / Mutation Detection / Cost effectiveness / Professional Practice / Sudden Cardiac Death / Genetic variation / Large Scale / Hypertrophic Cardiomyopathy / Cardiac Disease / Nucleotides / Medical

Ectodermal dysplasias: a new clinical-genetic classification

Genetics / Medical Genetics / Dermatology / Molecular Genetics / Biological Sciences / Mental Retardation / Humans / Classification / Phenotype / Genetic linkage analysis / Genes / Genotype / Clinical Signs / Ectodermal Dysplasia / Mental Retardation / Humans / Classification / Phenotype / Genetic linkage analysis / Genes / Genotype / Clinical Signs / Ectodermal Dysplasia

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

Genetics / Medical Genetics / Young People / Next generation sequencing / Biological Sciences / Clinical Practice / Humans / Mutation Detection / Cost effectiveness / Professional Practice / Sudden Cardiac Death / Genetic variation / Large Scale / Hypertrophic Cardiomyopathy / Cardiac Disease / Nucleotides / Medical / Clinical Practice / Humans / Mutation Detection / Cost effectiveness / Professional Practice / Sudden Cardiac Death / Genetic variation / Large Scale / Hypertrophic Cardiomyopathy / Cardiac Disease / Nucleotides / Medical

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome

Genetic traces of ancient demography

Genetics / Demography / Anthropology / Medical Genetics / Gene Flow / Population Genetics / Multidisciplinary / Natural Selection / Phylogeny / Fossil record / Mitochondrial DNA / Humans / Effect size / Modern Human Origins / Population History / Homo Erectus / Homo Sapiens / Old World / Population Size / Y chromosome / Genes / Demographic History / Short Tandem Repeat / Base Sequence / Population Genetics / Multidisciplinary / Natural Selection / Phylogeny / Fossil record / Mitochondrial DNA / Humans / Effect size / Modern Human Origins / Population History / Homo Erectus / Homo Sapiens / Old World / Population Size / Y chromosome / Genes / Demographic History / Short Tandem Repeat / Base Sequence
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