Pedigree

Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome

Humans / Female / Male / Infant / Pedigree / Newborn Infant / ALOPECIA / Short stature / Public health systems and services research / Autosomal Recessive / Clinical Presentation / Syndrome / Newborn Infant / ALOPECIA / Short stature / Public health systems and services research / Autosomal Recessive / Clinical Presentation / Syndrome

NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity

Behavioral Sciences / Biological Sciences / Humans / Female / Male / Degradation / Pedigree / Voltage-Gated Sodium Channels / Neurosciences / Case Control Studies / Cohort Studies / Degradation / Pedigree / Voltage-Gated Sodium Channels / Neurosciences / Case Control Studies / Cohort Studies

Congenital Creatine Transporter Deficiency

Magnetic Resonance Imaging / Magnetic Resonance Spectroscopy / Humans / Child / Female / Inborn errors of metabolism / Male / Pedigree / Membrane transport proteins / Adult / Neuropediatrics / Neurosciences / Inborn errors of metabolism / Male / Pedigree / Membrane transport proteins / Adult / Neuropediatrics / Neurosciences

An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus

Christianity / Schizophrenia / Bipolar Disorder / Borderline Personality Disorder / Biological Sciences / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Humans / Mutation / Clinical / Pedigree / Phenotype / Congenital Adrenal Hyperplasia / Base Sequence / Clinical Investigation / Congenital Adrenal Hyperplasia / Base Sequence / Clinical Investigation

High Frequency of Nonclassical Steroid 21-Hydroxylase Deficiency

Risk / Biological Sciences / High Frequency / Humans / American / Pedigree / Genotype / Pedigree / Genotype

Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease

Family / Neurodegenerative Diseases / Biological Sciences / Humans / Child / Female / Male / Pedigree / HeLa cells / Amino Acid Sequence / Base Sequence / Female / Male / Pedigree / HeLa cells / Amino Acid Sequence / Base Sequence

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex

Genetics / Membrane Proteins / Biological Sciences / Humans / Mutation / Female / Male / Endoplasmic Reticulum / Pedigree / HeLa cells / Hemophilia A / Transfection / Amino Acid Sequence / Golgi Apparatus / Hemorrhage / Female / Male / Endoplasmic Reticulum / Pedigree / HeLa cells / Hemophilia A / Transfection / Amino Acid Sequence / Golgi Apparatus / Hemorrhage

Cellular immune deficiency with autoimmune hemolytic anemia in purine nucleoside phosphorylase deficiency

Humans / Immunity / Female / Male / Pedigree / Cellular Immunity / B Lymphocytes / Erythrocytes / Body Fluids / Purine Nucleoside Phosphorylase / Cellular Immunity / B Lymphocytes / Erythrocytes / Body Fluids / Purine Nucleoside Phosphorylase

Paternal Mitochondrial DNA Transmission During Nonhuman Primate Nuclear Transfer

Genetics / Primates / Mitochondrial DNA / Sequence alignment / Female / Animals / Embryonic Stem Cell / Gene transfer techniques / Male / Pedigree / nuclear DNA / Cell nucleus / Base Sequence / Nuclear Transfer / Animals / Embryonic Stem Cell / Gene transfer techniques / Male / Pedigree / nuclear DNA / Cell nucleus / Base Sequence / Nuclear Transfer

Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype

Magnetic Resonance Imaging / Membrane Proteins / Humans / Mutation / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Muscles / Pedigree / Phenotype / Clinical Sciences / Adult / Annals / Neurosciences / Female / Muscular Dystrophies / Male / Muscles / Pedigree / Phenotype / Clinical Sciences / Adult / Annals / Neurosciences

Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia

Humans / Pedigree / Gene Dosage / Pediatric Diabetes / Diazoxide

Neurobehavioral mutants identified in an ENU-mutagenesis project

Genetics / Animal Behavior / Fear / Learning and Memory / Prepulse Inhibition / Mutagenesis / Mice / High throughput screening / Female / Animals / Male / Open Field / Genetic Map / Central Nervous System / Mental Disorders / Pedigree / Mental Disorder / Mouse Model / Large Scale / Nervous System Diseases / Mutagenesis / Mice / High throughput screening / Female / Animals / Male / Open Field / Genetic Map / Central Nervous System / Mental Disorders / Pedigree / Mental Disorder / Mouse Model / Large Scale / Nervous System Diseases

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Dementia / Biological Sciences / Humans / Mutation / Pedigree / Frontotemporal Dementia

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Dementia / Biological Sciences / Humans / Mutation / Pedigree / Frontotemporal Dementia

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Dementia / Biological Sciences / Humans / Mutation / Pedigree / Frontotemporal Dementia

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