Autosomal Recessive

Anestesia em Paciente com Insensibilidade Congênita a Dor e Anidrose * Anesthesia in a Patient With Congenital Insensitivity to Pain and Anhidrosis

Carbon Dioxide / Case Report / Humans / Operating Room / Female / Young Adult / General Anesthesia / Postoperative Complication / Autosomal Recessive / Autonomic Neuropathy / Hypohidrosis / Young Adult / General Anesthesia / Postoperative Complication / Autosomal Recessive / Autonomic Neuropathy / Hypohidrosis

Poiquilodermia congénita en Guatemala: reporte de dos casos

Short stature / Degeneration / Autosomal Recessive

Poiquilodermia congénita en Guatemala: reporte de dos casos

Short stature / Degeneration / Autosomal Recessive

Rod photoreceptor temporal properties in retinitis pigmentosa

Clinical Trial / Kinetics / Macular Degeneration / Humans / Mutation / Erg / Retinitis pigmentosa / Retinal Degeneration / Animal Model / Aged / Optometry and Ophthalmology / Adult / Degeneration / Autosomal Recessive / Neurosciences / Rhodopsin / Dark Adaptation / Recovery of Function / Erg / Retinitis pigmentosa / Retinal Degeneration / Animal Model / Aged / Optometry and Ophthalmology / Adult / Degeneration / Autosomal Recessive / Neurosciences / Rhodopsin / Dark Adaptation / Recovery of Function

A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22

Biological Sciences / Humans / Female / Male / Cataract / Pedigree / Phenotype / Middle Aged / Adult / Age Factors / Autosomal Recessive / Genetic Markers / The American / Pedigree / Phenotype / Middle Aged / Adult / Age Factors / Autosomal Recessive / Genetic Markers / The American

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome: Time to Review Diagnostic Criteria?

Endocrinology / Immunology / Autoimmunity / Adolescent / Transcription Factors / Innate immunity / Multidisciplinary / Disease susceptibility / Signal Transduction / Visual acuity / Italy / Mental Retardation / Clinical immunology / Gene Mapping / Humans / Child / Mutation / Sicily / Female / Male / Genetic Association Studies / Young Adult / Zinc / Clinical Sciences / Eye / IL / Electrocardiogram / Adult / Hormone / Prognosis / Interleukins / Antifungal Agents / CHRONIC MUCOCUTANEOUS CANDIDIASIS / Genetic Analysis / Autosomal Recessive / Case History / Autoantibodies / Interleukin / Thyroid Function / Diagnostic Criteria / Innate immunity / Multidisciplinary / Disease susceptibility / Signal Transduction / Visual acuity / Italy / Mental Retardation / Clinical immunology / Gene Mapping / Humans / Child / Mutation / Sicily / Female / Male / Genetic Association Studies / Young Adult / Zinc / Clinical Sciences / Eye / IL / Electrocardiogram / Adult / Hormone / Prognosis / Interleukins / Antifungal Agents / CHRONIC MUCOCUTANEOUS CANDIDIASIS / Genetic Analysis / Autosomal Recessive / Case History / Autoantibodies / Interleukin / Thyroid Function / Diagnostic Criteria

The mitochondrial protease HtrA2 is regulated by Parkinson\'s disease-associated kinase PINK1

MAP Kinase pathway and its regulation / Signal Transduction / Biological Sciences / Cell line / Brain / Humans / Protein Kinases / Mutation / Mice / Animals / Phosphorylation / Mitochondrial dysfunction / Protein Kinase / Autosomal Recessive / Serine Protease / Site-directed Mutagenesis / Parkinson Disease / Proteolytic activity / Mitochondrial Proteins / Humans / Protein Kinases / Mutation / Mice / Animals / Phosphorylation / Mitochondrial dysfunction / Protein Kinase / Autosomal Recessive / Serine Protease / Site-directed Mutagenesis / Parkinson Disease / Proteolytic activity / Mitochondrial Proteins

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

Autosomal Recessive Proximal Renal Tubular Acidosis

Autosomal Recessive / Renal tubular acidosis

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

Electroencephalography / Mitochondria / Biological Sciences / Humans / Female / Male / Karyotyping / Autosomal Recessive / Glutamic Acid / Glutamate Transporter / The American / Male / Karyotyping / Autosomal Recessive / Glutamic Acid / Glutamate Transporter / The American

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

Genetics / Lebanon / Intellectual Disability / Mental Retardation / Humans / C2H2 zinc fingers / Cerebellar ataxia / Genetic linkage analysis / European / Zinc Finger / Family Health / DNA binding / Disease Progression / Amino Acid Profile / Amino Acid Sequence / Autosomal Recessive / DNA binding proteins / Genetic Markers / Gene Expression Regulation / Zinc Finger Protein / C2H2 zinc fingers / Cerebellar ataxia / Genetic linkage analysis / European / Zinc Finger / Family Health / DNA binding / Disease Progression / Amino Acid Profile / Amino Acid Sequence / Autosomal Recessive / DNA binding proteins / Genetic Markers / Gene Expression Regulation / Zinc Finger Protein

Rod photoreceptor temporal properties in retinitis pigmentosa

Clinical Trial / Kinetics / Humans / Mutation / Erg / Retinitis pigmentosa / Animal Model / Aged / Optometry and Ophthalmology / Adult / Degeneration / Autosomal Recessive / Neurosciences / Rhodopsin / Retinitis pigmentosa / Animal Model / Aged / Optometry and Ophthalmology / Adult / Degeneration / Autosomal Recessive / Neurosciences / Rhodopsin

Primary appendiceal mucinous adenocarcinoma alongside with situs inversus totalis: a unique clinical case

Humans / Male / Ct Scan / Clinical Sciences / Middle Aged / Gastrointestinal Tract / X ray Computed Tomography / Autosomal Recessive / Abdominal Pain / Acute Appendicitis / Chest radiograph / Gastrointestinal Tract / X ray Computed Tomography / Autosomal Recessive / Abdominal Pain / Acute Appendicitis / Chest radiograph

Poiquilodermia congénita en Guatemala: reporte de dos casos

Short stature / Degeneration / Autosomal Recessive

Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family

Cognitive Science / Neurogenetics / Movement disorders / Molecular chaperones / Humans / Child / Female / Male / Siblings / Clinical Sciences / Family Health / Consanguinity / Autosomal Recessive / Child / Female / Male / Siblings / Clinical Sciences / Family Health / Consanguinity / Autosomal Recessive

Autosomal recessive nanophthalmos

Clinical Sciences / Optometry and Ophthalmology / ACTA / Autosomal Recessive / Neurosciences

Copyright © 2017 DADOSPDF Inc.