DNA mutational analysis

Aromatase Deficiency, a Rare Syndrome: Case Report

Rare diseases / Humans / Female / Inborn errors of metabolism / Male / Male Infertility / Pedigree / Gynecomastia / Family Health / Estrogens / Adult / Syndrome / Estradiol / DNA mutational analysis / Male Infertility / Pedigree / Gynecomastia / Family Health / Estrogens / Adult / Syndrome / Estradiol / DNA mutational analysis

Combined FV and FVIII deficiency

Membrane Proteins / Rare diseases / Haemophilia / Pregnancy / Humans / Mutation / Female / Male / Plasma / Blood Coagulation / Clinical Sciences / Hemophilia A / factor VIII / Hemorrhage / General Population / Coagulants / Intracellular Transport / DNA mutational analysis / Mutation / Female / Male / Plasma / Blood Coagulation / Clinical Sciences / Hemophilia A / factor VIII / Hemorrhage / General Population / Coagulants / Intracellular Transport / DNA mutational analysis

Intratumor heterogeneity in localized lung adenocarcinomas delineated by multiregion sequencing

Science / Multidisciplinary / Humans / Mutation / Exome / Adenocarcinoma / DNA mutational analysis / genetic heterogeneity / Adenocarcinoma / DNA mutational analysis / genetic heterogeneity

Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India

Brain development / India / Brain / Humans / Mutation / Male / Infant / X ray Computed Tomography / DNA mutational analysis / Male / Infant / X ray Computed Tomography / DNA mutational analysis

Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes

Intellectual Disability / Congenital Heart Defects / Humans / Child / Hair / Female / Male / Infant / Skin / Cryptorchidism / Dwarfism / Facies / Noonan syndrome / Amino Acid Substitution Rates / Medicina Clinica / K Map / Ectodermal Dysplasia / DNA mutational analysis / Child preschool / genetic heterogeneity / Female / Male / Infant / Skin / Cryptorchidism / Dwarfism / Facies / Noonan syndrome / Amino Acid Substitution Rates / Medicina Clinica / K Map / Ectodermal Dysplasia / DNA mutational analysis / Child preschool / genetic heterogeneity

A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease

Genetics / Cardiovascular disease / Human / DNA / Humans / Mutation / Cholesterol / Female / Male / Pedigree / Phenotype / Triglycerides / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Cardiovascular Diseases / Familial Hypercholesterolemia / Amino Acid Substitution Rates / DNA mutational analysis / Human mutation / Mutation / Cholesterol / Female / Male / Pedigree / Phenotype / Triglycerides / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Cardiovascular Diseases / Familial Hypercholesterolemia / Amino Acid Substitution Rates / DNA mutational analysis / Human mutation

Succinate Dehydrogenase (SDH)-deficient Renal Carcinoma

Immunohistochemistry / Adolescent / Humans / Female / Renal cell Carcinoma / Male / Polymerase Chain Reaction / Young Adult / Clinical Sciences / Aged / Middle Aged / Adult / Succinate Dehydrogenase / DNA mutational analysis / Male / Polymerase Chain Reaction / Young Adult / Clinical Sciences / Aged / Middle Aged / Adult / Succinate Dehydrogenase / DNA mutational analysis

De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics

Survival Analysis / Adolescent / Humans / Child / Mutation / Female / Male / Base Sequence / DNA binding proteins / Molecular Sequence Data / DNA mutational analysis / Female / Male / Base Sequence / DNA binding proteins / Molecular Sequence Data / DNA mutational analysis

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