Genetic counseling

Forma recessiva da síndrome de Freeman-Sheldon: relato de dois irmãos afetados

Genetics / Genetic counseling / High Frequency / Shared Knowledge / Clinical Presentation

Galactosialidosis presenting as nonimmune fetal hydrops: a case report

Genetics / Ultrasound / Genetic counseling / Pregnancy / Case Report / Humans / Female / Prenatal / Differential Diagnosis / Neuraminidase / Clinical Sciences / Gynecology / Foetus / Adult / Prenatal Diagnosis / Fetus / Hydrops Fetalis / Gestation / Humans / Female / Prenatal / Differential Diagnosis / Neuraminidase / Clinical Sciences / Gynecology / Foetus / Adult / Prenatal Diagnosis / Fetus / Hydrops Fetalis / Gestation

Galactosialidosis presenting as nonimmune fetal hydrops: a case report

Genetics / Ultrasound / Genetic counseling / Pregnancy / Case Report / Humans / Female / Prenatal / Differential Diagnosis / Neuraminidase / Clinical Sciences / Gynecology / Foetus / Adult / Prenatal Diagnosis / Fetus / Hydrops Fetalis / Gestation / Humans / Female / Prenatal / Differential Diagnosis / Neuraminidase / Clinical Sciences / Gynecology / Foetus / Adult / Prenatal Diagnosis / Fetus / Hydrops Fetalis / Gestation

Doença granulomatosa crônica autossômica: relato de caso a análise genético-molecular de dois irmãos brasileiros

Polymorphism / Heredity / Genetic counseling / Case Report / Humans / Child / Mutation / Primary Immunodeficiency / Female / Infection / Pneumonia / Male / DNA analysis / Pedigree / NADPH oxidase / Anions / Base Sequence / Clinical Signs / Electrophoretic Mobility / Child / Mutation / Primary Immunodeficiency / Female / Infection / Pneumonia / Male / DNA analysis / Pedigree / NADPH oxidase / Anions / Base Sequence / Clinical Signs / Electrophoretic Mobility

Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference

Genetics / Cognitive Science / Dementia / Magnetic Resonance Imaging / Neuropathology / Molecular Genetics / Poland / Movement disorders / Genetic counseling / Temporal Lobe / Brain / Humans / Mutation / Female / Male / Differential Diagnosis / Electromyography / Life Expectancy / Pedigree / Genetic linkage analysis / Clinical Sciences / North America / Middle Aged / Cognitive impairment / Adult / Frontotemporal Dementia / X ray Computed Tomography / Protein Binding / Psychomotor Disorders / Neurosciences / Frontal Lobe / Parkinson Disease / Cognition disorders / Molecular Genetics / Poland / Movement disorders / Genetic counseling / Temporal Lobe / Brain / Humans / Mutation / Female / Male / Differential Diagnosis / Electromyography / Life Expectancy / Pedigree / Genetic linkage analysis / Clinical Sciences / North America / Middle Aged / Cognitive impairment / Adult / Frontotemporal Dementia / X ray Computed Tomography / Protein Binding / Psychomotor Disorders / Neurosciences / Frontal Lobe / Parkinson Disease / Cognition disorders

Resenha: Humanização, Gênero e Poder

Conversation Analysis / Genetic counseling

Alpha-mannosidosis

Genetics / Orthopedic Surgery / Intellectual Disability / Genetic counseling / Humans / Sensorineural Hearing Loss / Genetic Testing / Mutation / Differential Diagnosis / Social Skill / Hearing Impaired / Motor Function / First Year / Prognosis / Protein Conformation / Autosomal Recessive / Hearing Aid / Lysosomal Storage Disorder / Sensorineural Hearing Loss / Genetic Testing / Mutation / Differential Diagnosis / Social Skill / Hearing Impaired / Motor Function / First Year / Prognosis / Protein Conformation / Autosomal Recessive / Hearing Aid / Lysosomal Storage Disorder

ANALISE GENÉTICA DAS CAUSAS DA VARIAÇÃO FENOTÍPICA NA DOENÇA DE MACHADO-JOSEPH (PhD thesis, 1989)

Medical Genetics / Neurogenetics / Neurodegenerative Disoders / Neurodegenerative Diseases / Genetic counseling / Society and Genetics / Psychosocial Genetics / Neurosciences / Genetics and Ethics / Society and Genetics / Psychosocial Genetics / Neurosciences / Genetics and Ethics

A sense of autonomy is preserved under Chinese reproductive policies

Sociology / Social Change / Jurisprudence / Social Policy / Public Opinion / Bioethics / Social Problems / Reproduction / China / Ultrasound / Social Responsibility / Genetic counseling / Pregnancy / Humans / Eugenics / Sex ratio / Female / Male / Population Control / Attitude / Paternalism / Data Collection / Family Planning / Social Values / Reproductive behavior / Prenatal Diagnosis / Rural Area / Boolean Satisfiability / Prenatal Care / Personal autonomy / Health Personnel / Disabled Persons / Bioethics / Social Problems / Reproduction / China / Ultrasound / Social Responsibility / Genetic counseling / Pregnancy / Humans / Eugenics / Sex ratio / Female / Male / Population Control / Attitude / Paternalism / Data Collection / Family Planning / Social Values / Reproductive behavior / Prenatal Diagnosis / Rural Area / Boolean Satisfiability / Prenatal Care / Personal autonomy / Health Personnel / Disabled Persons

Galactosialidosis presenting as nonimmune fetal hydrops: a case report

Genetics / Ultrasound / Genetic counseling / Pregnancy / Case Report / Humans / Female / Prenatal / Differential Diagnosis / Neuraminidase / Clinical Sciences / Gynecology / Foetus / Adult / Prenatal Diagnosis / Fetus / Hydrops Fetalis / Gestation / Humans / Female / Prenatal / Differential Diagnosis / Neuraminidase / Clinical Sciences / Gynecology / Foetus / Adult / Prenatal Diagnosis / Fetus / Hydrops Fetalis / Gestation

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