Mental Retardation

Gene Expression Profiles in a Transgenic Animal Model of Fragile X Syndrome

Neurobiology Of Disease / Neurobiology / Molecular Mechanics / Mental Retardation / Brain / Mice / Female / Animals / Male / Animal Model / Fragile X Syndrome / Amyloid Beta / Spatial Distribution / Clinical Sciences / Knockout Mice / Neurosciences / Microarray Data / Gene expression profiling / Amyloid Beta Precursor Protein / Mice / Female / Animals / Male / Animal Model / Fragile X Syndrome / Amyloid Beta / Spatial Distribution / Clinical Sciences / Knockout Mice / Neurosciences / Microarray Data / Gene expression profiling / Amyloid Beta Precursor Protein

Síndrome de Prader Willi: estudio de 77 pacientes

Genetics / Mental Retardation / Prader-Willi Syndrome / Developmental delay / Medicina Clinica

Función ejecutiva y cociente intelectual en pacientes con diagnóstico de esquizofrenia

Executive Function / Mental Retardation / Health Professionals / Wisconsin Card Sorting Test

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

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

Skeletal muscle biology / Immunohistochemistry / Multidisciplinary / Nature / Western blotting / Mental Retardation / Case Report / Humans / Female / Male / Genetic linkage analysis / X chromosome / Cardiomyopathies / Membrane Protein / Lysosomal Storage Diseases / Mental Retardation / Case Report / Humans / Female / Male / Genetic linkage analysis / X chromosome / Cardiomyopathies / Membrane Protein / Lysosomal Storage Diseases

Cortical dysplasia, temporal atrophy, mental retardation, dysmorphic facies, and partial epilepsy: An EEG and dynamic susceptibility contrast (DSC) MRI study in a new possible genetic syndrome

Genetics / Neuroscience / Cognitive Science / Magnetic Resonance Imaging / Electroencephalography / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

Skeletal muscle biology / Immunohistochemistry / Multidisciplinary / Nature / Western blotting / Mental Retardation / Case Report / Humans / Female / Male / Genetic linkage analysis / X chromosome / Cardiomyopathies / Membrane Protein / Lysosomal Storage Diseases / Mental Retardation / Case Report / Humans / Female / Male / Genetic linkage analysis / X chromosome / Cardiomyopathies / Membrane Protein / Lysosomal Storage Diseases

Cortical dysplasia, temporal atrophy, mental retardation, dysmorphic facies, and partial epilepsy: An EEG and dynamic susceptibility contrast (DSC) MRI study in a new possible genetic syndrome

Genetics / Neuroscience / Cognitive Science / Magnetic Resonance Imaging / Electroencephalography / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Genetics / Epilepsy / Adolescent / Intellectual Disability / Mental Retardation / Cerebrospinal Fluid / Brain / Humans / Child / Blood Glucose / Mutation / Female / Male / Young Adult / Infant / Phenotype / Glucose Transport / Spectrum / Adult / Clinical Data / Retrospective Studies / Syndrome / Translation initiation / Age of Onset / Data Type / Movement Disorder / Ketogenic diet / Cerebrospinal Fluid / Brain / Humans / Child / Blood Glucose / Mutation / Female / Male / Young Adult / Infant / Phenotype / Glucose Transport / Spectrum / Adult / Clinical Data / Retrospective Studies / Syndrome / Translation initiation / Age of Onset / Data Type / Movement Disorder / Ketogenic diet

Tamiz metabólico neonatal por espectrometría de masas en tándem: dos años de experiencia en Nuevo León, México

Prevention / Mental Retardation / Inborn errors of metabolism / Developmental disabilities / Public health systems and services research

Central Precocious Puberty and Abnormal Chromosomal Patterns

Mental Retardation / Endocrine / Prader-Willi Syndrome / Clinical Sciences / Human Genome / Endocrine pathology / Sexual Development / Chromosomal abnormalities / Premature Ovarian Failure / Endocrine pathology / Sexual Development / Chromosomal abnormalities / Premature Ovarian Failure
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